Submissions for variant NM_003640.5(ELP1):c.1263A>G (p.Pro421=)

gnomAD frequency: 0.00001  dbSNP: rs371100951

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865438	SCV001006401	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495249	SCV002803115	likely benign	Medulloblastoma; Familial dysautonomia	2021-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004027650	SCV003855290	likely benign	not specified	2022-11-04	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.
Natera, Inc.	RCV001278722	SCV001465754	uncertain significance	Familial dysautonomia	2020-09-14	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975404	SCV004789400	likely benign	ELP1-related disorder	2019-03-25	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).