ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)

gnomAD frequency: 0.00133  dbSNP: rs775995985
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877874 SCV001020679 likely benign Anterior segment dysgenesis 7 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001593117 SCV001824907 likely benign not provided 2019-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001593117 SCV002822610 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001593117 SCV001917004 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001593117 SCV001976129 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908351 SCV004722391 likely benign PXDN-related disorder 2020-07-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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