ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.333del (p.Phe111fs)

dbSNP: rs397514356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000021922 SCV001810303 likely pathogenic Biotinidase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021922 SCV004211489 pathogenic Biotinidase deficiency 2022-05-15 criteria provided, single submitter clinical testing

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