ClinVar Miner

Submissions for variant NM_016495.6(TBC1D7):c.517T>C (p.Leu173=)

gnomAD frequency: 0.11098  dbSNP: rs482227
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573336 SCV001867675 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001573336 SCV002468515 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573336 SCV001799053 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727884 SCV001972744 benign not specified no assertion criteria provided clinical testing

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