ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)

dbSNP: rs1553653732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673413 SCV000798613 likely pathogenic Biotinidase deficiency 2018-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673413 SCV004211394 likely pathogenic Biotinidase deficiency 2023-10-26 criteria provided, single submitter clinical testing

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