ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1065+97G>A

gnomAD frequency: 0.21736  dbSNP: rs12580432
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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 RCV001269047 SCV001448239 benign Phenylketonuria 2020-08-07 reviewed by expert panel curation The c.1065+97G>A variant in PAH has a MAF of 0.2430 in the gnomAD non-Finnish European 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
Breakthrough Genomics, Breakthrough Genomics RCV000088738 SCV005235491 benign not provided criteria provided, single submitter not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088738 SCV000119320 not provided not provided no assertion provided not provided

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