ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) (rs1553654142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674623 SCV000799992 likely pathogenic Biotinidase deficiency 2018-05-16 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000674623 SCV000845829 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 1.4 U/L. Seen with c.1330G>C,p.D444H.

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