ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) (rs35145938)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078063 SCV000109901 benign not specified 2013-06-19 criteria provided, single submitter clinical testing
Counsyl RCV000032025 SCV000220687 likely benign Biotinidase deficiency 2014-09-17 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000078063 SCV000301784 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429839 SCV000511804 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Invitae RCV000032025 SCV000630322 benign Biotinidase deficiency 2017-06-14 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000032025 SCV000055355 benign Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only One benign variant, p.Y428Y was observed together with one pathogenic variant, p.P497S. The latter variant is also observed alone.

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