ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) (rs397507174)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021949 SCV000790182 likely pathogenic Biotinidase deficiency 2017-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724129 SCV000230015 likely pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021949 SCV000042618 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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