ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1152C>G (p.Pro384=)

dbSNP: rs281865458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106340 SCV001625567 likely benign Phenylketonuria 2022-04-24 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000106340 SCV000143839 probable-non-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely benign.

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