ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) (rs118098246)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178837 SCV000231002 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000880900 SCV000514107 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25133751)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000178837 SCV000966323 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val191Glu in Exon 05 of PDZD7: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (63/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs118098246).
Invitae RCV000880900 SCV001024026 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000880900 SCV001144895 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000880900 SCV001746039 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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