ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.400-4C>T

gnomAD frequency: 0.00013  dbSNP: rs372355662
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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 RCV001396349 SCV001598079 likely benign Biotinidase deficiency 2024-06-15 criteria provided, single submitter clinical testing

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