ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.-71A>C (rs2280615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000326257 SCV001370825 benign Phenylketonuria 2020-03-27 reviewed by expert panel curation The c.-71A>C variant in PAH has a MAF of 0.16686 in the gnomAD African population. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1.
Illumina Clinical Services Laboratory,Illumina RCV000326257 SCV000375572 benign Phenylketonuria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088694 SCV000119274 not provided not provided no assertion provided not provided

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