ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)

gnomAD frequency: 0.00029  dbSNP: rs192668758
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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 RCV000825813 SCV000967283 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gln543Gln in exon 11 of PDZD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.06% (3/5052) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs192668758).
Labcorp Genetics (formerly Invitae), Labcorp RCV001417965 SCV001620179 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001417965 SCV001824362 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501156 SCV002813674 likely benign Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2022-01-24 criteria provided, single submitter clinical testing

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