ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.78C>T (p.Leu26=)

dbSNP: rs1164162179
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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 RCV001409616 SCV001611647 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004907716 SCV005575147 likely benign not specified 2024-08-12 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. RCV001831446 SCV002082189 likely benign Familial dysautonomia 2019-04-01 no assertion criteria provided clinical testing

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