ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)

gnomAD frequency: 0.00204  dbSNP: rs546907305
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Total submissions: 3
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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 RCV000825812 SCV000967282 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu635Glu in exon 13 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 0.22% (2/906) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs546907305).
Invitae RCV000965150 SCV001112410 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000965150 SCV001813419 likely benign not provided 2020-04-13 criteria provided, single submitter clinical testing

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