ClinVar Miner

Submissions for variant NM_017752.3(TBC1D8B):c.2920C>T (p.Leu974Phe)

dbSNP: rs34694710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665201 SCV001874928 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815604 SCV002062222 likely benign Nephrotic syndrome, type 20 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001665201 SCV003251673 benign not provided 2024-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968429 SCV004784562 likely benign TBC1D8B-related disorder 2020-01-21 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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