Submissions for variant NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)

gnomAD frequency: 0.17921  dbSNP: rs6820907

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248616	SCV000316136	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248616	SCV000331735	benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289860	SCV000450114	benign	Ellis-van Creveld syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289860	SCV000484088	benign	Ellis-van Creveld syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347215	SCV000484089	benign	Curry-Hall syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000248616	SCV000516345	benign	not specified	2016-04-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812742	SCV000885376	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511703	SCV001718988	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812742	SCV005304803	benign	not provided		criteria provided, single submitter	not provided