Submissions for variant NM_153717.3(EVC):c.107C>G (p.Ala36Gly)

gnomAD frequency: 0.00005  dbSNP: rs1219807707

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001300483	SCV001489625	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-02-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004036164	SCV004866820	uncertain significance	Inborn genetic diseases	2024-02-17	criteria provided, single submitter	clinical testing	The c.107C>G (p.A36G) alteration is located in exon 1 (coding exon 1) of the EVC gene. This alteration results from a C to G substitution at nucleotide position 107, causing the alanine (A) at amino acid position 36 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001830172	SCV002083010	uncertain significance	Ellis-van Creveld syndrome	2020-06-12	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003973195	SCV004790019	likely benign	EVC-related disorder	2022-05-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).