ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)

gnomAD frequency: 0.81877  dbSNP: rs807022
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Total submissions: 10
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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 RCV000037100 SCV000060757 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg773Arg in Exon 15 of PDZD7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 26.3% (31/118) of chr omosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pr ojects/SNP; rs807022).
Eurofins Ntd Llc (ga) RCV000037100 SCV000226256 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037100 SCV000306996 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835644 SCV000977444 benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000835644 SCV001727392 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787826 SCV002029549 benign Hearing loss, autosomal recessive 57 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787825 SCV002029550 benign Usher syndrome type 2C 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835644 SCV005320072 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037100 SCV001743203 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037100 SCV001955635 benign not specified no assertion criteria provided clinical testing

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