ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.4206+79G>A

gnomAD frequency: 0.84241  dbSNP: rs6742040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544239 SCV001763235 benign Anterior segment dysgenesis 7 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694079 SCV001910956 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694079 SCV005283689 benign not provided criteria provided, single submitter not provided

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