ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1599A>G (p.Ala533=)

gnomAD frequency: 0.00007  dbSNP: rs771318456
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864502 SCV001005312 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507483 SCV002798814 likely benign Medulloblastoma; Familial dysautonomia 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027624 SCV003906989 likely benign not specified 2023-02-26 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. RCV001830875 SCV002082124 likely benign Familial dysautonomia 2017-11-15 no assertion criteria provided clinical testing

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