ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=)

gnomAD frequency: 0.23931  dbSNP: rs17058639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606368 SCV000730204 benign not specified 2017-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514192 SCV001721976 benign Brugada syndrome 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606368 SCV003928329 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716584 SCV005300395 benign not provided criteria provided, single submitter not provided

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