ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1030dup (p.Ile344fs)

dbSNP: rs2471516926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135875 SCV003813040 pathogenic Biotinidase deficiency 2022-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003135875 SCV004211408 pathogenic Biotinidase deficiency 2023-10-12 criteria provided, single submitter clinical testing

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