ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.185C>T (p.Ala62Val) (rs397507171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021907 SCV000800679 uncertain significance Biotinidase deficiency 2018-03-23 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021907 SCV000042576 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 0.5 U/L w/no pair control. Seen with c.1330G>C,p.D444H.

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