"PreventionGenetics, part of Exact Sciences"[submitter] AND "RNPC3"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033977	NM_017619.4(RNPC3):c.180T>A (p.Asp60Glu)	RNPC3 (D60E)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GBenign
Select item 3058769	NM_017619.4(RNPC3):c.556-7C>T	RNPC3	Single nucleotide variant (intron variant)	RNPC3-related disorder	GLikely benign
Select item 3045438	NM_017619.4(RNPC3):c.1024A>C (p.Asn342His)	RNPC3 (N342H)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GLikely benign
Select item 3044994	NM_017619.4(RNPC3):c.1025A>C (p.Asn342Thr)	RNPC3 (N342T)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GLikely benign
Select item 3043016	NM_017619.4(RNPC3):c.1207+10C>T	RNPC3	Single nucleotide variant (intron variant)	RNPC3-related disorder	GLikely benign
Select item 3053646	NM_017619.4(RNPC3):c.1467T>C (p.Tyr489=)	RNPC3	Single nucleotide variant (synonymous variant)	RNPC3-related disorder	GLikely benign

ClinVar