ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1834T>C (p.Leu612=)

gnomAD frequency: 0.00003  dbSNP: rs768084021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001479931 SCV001684238 likely benign not provided 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037200 SCV002755867 likely benign not specified 2021-04-22 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. RCV001826312 SCV002082110 likely benign Familial dysautonomia 2021-07-06 no assertion criteria provided clinical testing

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