ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.969+43G>T (rs1522306)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000721183 SCV000852157 benign Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: BA1: MAF=0.49022 in ExAC; BP2: Observed in cis with R261Q. (PMID:24048906). In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP2).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078540 SCV000110396 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078540 SCV000303449 benign not specified criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089180 SCV000119795 not provided not provided no assertion provided not provided

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