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

gnomAD frequency: 0.00754  dbSNP: rs143414291

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 (http://www.ncbi.nlm.nih.gov/variation/tools/1 000genomes; rs143414291).
Eurofins Ntd Llc (ga)	RCV000037099	SCV000226253	benign	not specified	2015-01-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954274	SCV001100897	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	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)
CeGaT Center for Human Genetics Tuebingen	RCV000954274	SCV004127237	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PDZD7: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000954274	SCV005227162	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000037099	SCV001923342	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000954274	SCV001972498	likely benign	not provided		no assertion criteria provided	clinical testing