ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=)

gnomAD frequency: 0.00301  dbSNP: rs146313438
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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 RCV001515852 SCV001724013 benign Brugada syndrome 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003987552 SCV002721452 likely benign not specified 2022-02-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987552 SCV004803602 benign not specified 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716511 SCV005300418 benign not provided criteria provided, single submitter not provided

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