ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-74G>A

gnomAD frequency: 0.00001  dbSNP: rs200884349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664987 SCV000789037 uncertain significance Biotinidase deficiency 2016-12-27 criteria provided, single submitter clinical testing

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