ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.642C>T (p.Thr214=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601839 SCV004427137 likely benign Biotinidase deficiency 2023-01-26 criteria provided, single submitter clinical testing

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