ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.534C>T (p.Val178=)

gnomAD frequency: 0.00002  dbSNP: rs757159632
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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 RCV002133865 SCV002451521 likely benign Biotinidase deficiency 2024-10-25 criteria provided, single submitter clinical testing

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