ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.411C>T (p.Arg137=)

gnomAD frequency: 0.00041  dbSNP: rs141240202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455619 SCV001659383 likely benign Biotinidase deficiency 2025-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711643 SCV005264658 likely benign not provided criteria provided, single submitter not provided

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