ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.510-54G>A

gnomAD frequency: 0.32128  dbSNP: rs2251905
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001199989 SCV001370824 benign Phenylketonuria 2020-03-27 reviewed by expert panel curation The c.510-54G>A variant in PAH has a MAF of 0.4069 in the gnomAD European (Finnish) population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7
Pars Genome Lab RCV001199989 SCV001750008 benign Phenylketonuria 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000088960 SCV001861672 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000088960 SCV005235502 benign not provided criteria provided, single submitter not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088960 SCV000119563 not provided not provided no assertion provided not provided

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