ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.1182T>C (p.Ser394=)

gnomAD frequency: 0.01411  dbSNP: rs76057922
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539409 SCV000650797 benign Anterior segment dysgenesis 7 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001672843 SCV001885584 benign not provided 2019-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672843 SCV005283722 benign not provided criteria provided, single submitter not provided

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