Submissions for variant NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)

dbSNP: rs138959688

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041893	SCV000065589	likely benign	not specified	2015-05-27	criteria provided, single submitter	clinical testing	p.Asp2237Glu in exon 35 of USH2A: This variant is not expected to have clinical significance because the aspartic acid (Asp) residue at position 2237 is not con served through species, with >10 mammals having a glutamic acid (Glu) at this po sition. It has been identified in 0.2% (16/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1389 59688).
Eurofins Ntd Llc (ga)	RCV000729028	SCV000856662	uncertain significance	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV000729028	SCV001197796	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000729028	SCV004039641	uncertain significance	not provided	2023-09-29	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genetics, Academic Medical Center	RCV000729028	SCV001920347	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000729028	SCV001976294	likely benign	not provided		no assertion criteria provided	clinical testing