ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.717C>T (p.Tyr239=) (rs142720126)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153695 SCV000203252 likely benign not specified 2014-04-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625408 SCV000745258 likely benign Phytanic acid storage disease 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000676010 SCV001024025 benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676010 SCV000801742 benign not provided 2016-10-14 no assertion criteria provided clinical testing

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