ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1316-35C>T

gnomAD frequency: 0.01677  dbSNP: rs62509021
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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 RCV001199990 SCV001370826 benign Phenylketonuria 2020-03-27 reviewed by expert panel curation The c.1316-35C>T variant in PAH has a MAF of 0.02321 in the gnomAD European (Non-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
PreventionGenetics, part of Exact Sciences RCV000251588 SCV000303443 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000088831 SCV001759575 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000088831 SCV005235481 benign not provided criteria provided, single submitter not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088831 SCV000119423 not provided not provided no assertion provided not provided

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