ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn)

gnomAD frequency: 0.00090  dbSNP: rs201763004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878112 SCV001020966 likely benign Anterior segment dysgenesis 7 2023-12-27 criteria provided, single submitter clinical testing

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