ClinVar Miner

Submissions for variant NM_001281723.2(BTD):c.886A>G (p.Ile296Val) (rs35976361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Institute,ARUP Laboratories RCV000021969 SCV000042639 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 3.3 U/L w/no paired control. Second mutation not identified.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224487 SCV000280765 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000021969 SCV000800817 likely benign Biotinidase deficiency 2018-06-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021969 SCV000441826 likely benign Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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