ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.612T>C (p.Tyr204=) (rs62514928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106363 SCV001082908 benign Phenylketonuria 2019-12-31 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000106363 SCV000143863 probable-non-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely benign.

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