ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)

dbSNP: rs555444131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155451 SCV000205142 likely benign not specified 2013-03-14 criteria provided, single submitter clinical testing Glu450del in exon 9 of PDZD7: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of no te, the marmoset has an in-frame deletion of the glutamate (Glu) at this positio n.
Eurofins Ntd Llc (ga) RCV000723969 SCV000233032 uncertain significance not provided 2014-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000723969 SCV001733132 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000723969 SCV001812154 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737242 SCV005352348 likely benign PDZD7-related disorder 2024-05-06 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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