ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-17+1del

dbSNP: rs1057517114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412426 SCV000486767 likely pathogenic Biotinidase deficiency 2016-08-03 criteria provided, single submitter clinical testing

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