ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) (rs143414291)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037099 SCV000060756 benign not specified 2018-01-25 criteria provided, single submitter clinical testing p.Pro715Leu in exon 15 of PDZD7: This variant is not expected to have clinical s ignificance because it has been identified in 4.3% (10/230) of Hispanic chromoso mes from the 1000 Genomes project ( 000genomes; rs143414291).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037099 SCV000226253 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000954274 SCV001100897 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000954274 SCV001144893 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000954274 SCV001908869 benign not provided 2019-11-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24498627)
Clinical Genetics,Academic Medical Center RCV000037099 SCV001923342 benign not specified no assertion criteria provided clinical testing

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