ClinVar Miner

Submissions for variant NM_001396959.1(TBC1D1):c.645C>A (p.Asn215Lys)

gnomAD frequency: 0.00173  dbSNP: rs201858985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970836 SCV001118439 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906001 SCV004722524 likely benign TBC1D1-related disorder 2021-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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