ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)

gnomAD frequency: 0.00005  dbSNP: rs184739734
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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 RCV000869982 SCV001011447 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027767 SCV002756272 likely benign not specified 2022-07-11 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 RCV002495292 SCV002799061 likely benign Medulloblastoma; Familial dysautonomia 2021-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271218 SCV001452220 likely benign Familial dysautonomia 2020-06-01 no assertion criteria provided clinical testing

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