Submissions for variant NM_003640.5(ELP1):c.888A>G (p.Ala296=)

gnomAD frequency: 0.00001  dbSNP: rs371923882

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439637	SCV000529186	likely benign	not specified	2016-07-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000630705	SCV000751672	likely benign	not provided	2024-03-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000439637	SCV002755125	likely benign	not specified	2019-07-11	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.
Fulgent Genetics, Fulgent Genetics	RCV002502560	SCV002813633	likely benign	Medulloblastoma; Familial dysautonomia	2021-12-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000630705	SCV005890484	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ELP1: BP4, BP7
Natera, Inc.	RCV001828422	SCV002082148	likely benign	Familial dysautonomia	2018-06-25	no assertion criteria provided	clinical testing