ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=)

gnomAD frequency: 0.00001  dbSNP: rs565952913
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Total submissions: 4
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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 RCV000825084 SCV000966325 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg744Arg in exon 15 of PDZD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.83% (26/3148) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs565952913).
Labcorp Genetics (formerly Invitae), Labcorp RCV001512293 SCV001719685 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001512293 SCV001787770 likely benign not provided 2019-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549904 SCV004739810 likely benign PDZD7-related disorder 2019-06-04 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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