ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.648G>A (p.Ala216=)

gnomAD frequency: 0.00115  dbSNP: rs183196973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945493 SCV001091514 benign Anterior segment dysgenesis 7 2024-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714159 SCV005283726 benign not provided criteria provided, single submitter not provided

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