Submissions for variant NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)

gnomAD frequency: 0.00013  dbSNP: rs202093384

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884780	SCV001028181	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001595054	SCV001829892	benign	not provided	2020-07-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001595054	SCV004147601	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	EVC2: BP4
Ambry Genetics	RCV004973139	SCV005585147	uncertain significance	Inborn genetic diseases	2024-11-09	criteria provided, single submitter	clinical testing	The c.1208G>A (p.S403N) alteration is located in exon 10 (coding exon 10) of the EVC2 gene. This alteration results from a G to A substitution at nucleotide position 1208, causing the serine (S) at amino acid position 403 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001595054	SCV001979854	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001595054	SCV001980005	likely benign	not provided		no assertion criteria provided	clinical testing