ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1264del (p.Val422fs)

dbSNP: rs1057517362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410785 SCV000487164 likely pathogenic Biotinidase deficiency 2016-10-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410785 SCV004211469 pathogenic Biotinidase deficiency 2023-04-07 criteria provided, single submitter clinical testing

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