ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.975T>C (p.Ile325=)

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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 RCV003601038 SCV004524886 likely benign Biotinidase deficiency 2023-12-09 criteria provided, single submitter clinical testing

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