ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.841C>G (p.Pro281Ala)

dbSNP: rs199475654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inserm U 954, Faculté de Médecine de Nancy RCV000106370 SCV000143870 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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