ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-46T>C

gnomAD frequency: 0.00004  dbSNP: rs374044613
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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 RCV001408355 SCV001610353 likely benign Biotinidase deficiency 2023-12-14 criteria provided, single submitter clinical testing

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