ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) (rs398123291)

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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 RCV000721174 SCV000852090 uncertain significance Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: Identified a single time in gnomAD (4.06e-06) and absent in ExAC; PM4: p.Ala104_Val106del; PP4: Single patient picked up on NBS with no confirmation studies, no clinical info, no Phe levels, etc. (PMID:27308838). 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, PP4).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078519 SCV000110375 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing

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