ClinVar Miner

Submissions for variant NM_000277.1(PAH):c.169-4950_352+1467delinsGGCACCTG

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000615 SCV000020765 pathogenic Phenylketonuria 1990-03-08 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088856 SCV000119451 not provided not provided no assertion provided not provided

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