ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.509+101A>C

gnomAD frequency: 0.18689  dbSNP: rs10860933
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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 RCV001269314 SCV001448665 benign Phenylketonuria 2020-09-12 reviewed by expert panel curation The c.509+101A>C variant in PAH has a MAF of 0.2325 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
Pars Genome Lab RCV001269314 SCV001750009 benign Phenylketonuria 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001673041 SCV001885528 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673041 SCV005235503 benign not provided criteria provided, single submitter not provided

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