ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.969C>T (p.Ala323=)

gnomAD frequency: 0.00074  dbSNP: rs61746899
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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 RCV000969808 SCV001117343 benign Anterior segment dysgenesis 7 2022-07-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729770 SCV001978965 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729770 SCV001979939 likely benign not provided no assertion criteria provided clinical testing

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