ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)

gnomAD frequency: 0.01353  dbSNP: rs6723697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529734 SCV000650805 benign Anterior segment dysgenesis 7 2024-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001683579 SCV001903439 benign not provided 2020-08-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683579 SCV005283701 benign not provided criteria provided, single submitter not provided

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