ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)

gnomAD frequency: 0.00686  dbSNP: rs115076385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252963 SCV000311896 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553586 SCV000650804 benign Anterior segment dysgenesis 7 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001546267 SCV001765759 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001546267 SCV005260540 likely benign not provided criteria provided, single submitter not provided

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