ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.983C>T (p.Thr328Ile) (rs886042096)

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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 RCV000721175 SCV000852100 uncertain significance Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP3: Predicted deleterious in SIFT, PolyPhen2, Mutation Taster. REVEL=0.952. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000350174 SCV000331217 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing

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