ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.387C>T (p.Phe129=)

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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 RCV003072181 SCV003466270 likely benign Biotinidase deficiency 2024-02-05 criteria provided, single submitter clinical testing

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