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
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
Counsyl RCV000032025 SCV000220687 likely benign Biotinidase deficiency 2014-09-17 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078063 SCV000109901 benign not specified 2013-06-19 criteria provided, single submitter clinical testing
Invitae RCV000032025 SCV000630322 benign Biotinidase deficiency 2017-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078063 SCV000301784 benign not specified 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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