ClinVar Miner

Submissions for variant NM_016495.6(TBC1D7):c.171A>G (p.Ala57=)

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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 RCV002933615 SCV003269410 benign not provided 2022-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963454 SCV004782392 likely benign TBC1D7-related disorder 2020-02-17 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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