ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1644-31A>G

gnomAD frequency: 0.66246  dbSNP: rs9518061
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253360 SCV000303452 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000253360 SCV000330989 benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533447 SCV001750049 benign Propionic acidemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001651122 SCV001863326 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533447 SCV002029407 benign Propionic acidemia 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651122 SCV005233250 benign not provided criteria provided, single submitter not provided

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