ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1542C>T (p.Phe514=)

gnomAD frequency: 0.00001  dbSNP: rs267602078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667607 SCV000792085 likely benign Familial dysautonomia 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054918 SCV002351183 likely benign not provided 2023-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019080 SCV002755213 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.

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