Submissions for variant NM_003640.5(ELP1):c.2025C>T (p.Ala675=)

gnomAD frequency: 0.00020  dbSNP: rs200532312

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000861780	SCV000533385	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861780	SCV001002180	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022471	SCV002756296	likely benign	not specified	2022-04-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000861780	SCV004158540	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ELP1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000861780	SCV005224848	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001276231	SCV001462231	uncertain significance	Familial dysautonomia	2020-01-17	no assertion criteria provided	clinical testing