ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1515G>A (p.Arg505=)

dbSNP: rs2125507062
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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 RCV002077607 SCV002329655 likely benign Biotinidase deficiency 2021-01-31 criteria provided, single submitter clinical testing

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