ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.796A>G (p.Thr266Ala)

dbSNP: rs62508752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854515 SCV002309992 uncertain significance Phenylketonuria 2021-08-28 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089096 SCV000119703 not provided not provided no assertion provided not provided

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