ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.662A>G (p.Glu221Gly) (rs62514934)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000640 SCV000020790 pathogenic Phenylketonuria 1991-08-01 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089024 SCV000119629 not provided not provided no assertion provided not provided

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