ClinVar Miner

Submissions for variant NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) (rs62514902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088883 SCV000119480 not provided not provided no assertion provided not provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088883 SCV000228839 pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761308 SCV000891286 likely pathogenic Phenylketonuria 2017-10-24 criteria provided, single submitter clinical testing

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