ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.2640C>G (p.Arg880=)

dbSNP: rs79442404
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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 RCV000951615 SCV001098028 benign Anterior segment dysgenesis 7 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001555478 SCV001776910 likely benign not provided 2019-05-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001555478 SCV005260542 likely benign not provided criteria provided, single submitter not provided

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