ClinVar Miner

Submissions for variant NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) (rs281865431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000106352 SCV000852110 uncertain significance Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: chr12-103288654--GAGAAG; Absent from population databases; PM4: in-frame insertion. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PM4).
Inserm U 954, Faculté de Médecine de Nancy RCV000106352 SCV000143851 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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