ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs62514928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106363 SCV001082908 benign Phenylketonuria 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352770 SCV004075588 likely benign Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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.
Natera, Inc. RCV000106363 SCV002088658 likely benign Phenylketonuria 2020-04-17 no assertion criteria provided clinical testing

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