ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) (rs1057517225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411441 SCV000486941 likely pathogenic Biotinidase deficiency 2016-09-09 criteria provided, single submitter clinical testing

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