ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1503del (p.Arg502fs)

dbSNP: rs1163419871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668694 SCV000793338 uncertain significance Biotinidase deficiency 2017-08-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668694 SCV004211457 likely pathogenic Biotinidase deficiency 2024-03-07 criteria provided, single submitter clinical testing

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