ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)

gnomAD frequency: 0.00021  dbSNP: rs147930567
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Total submissions: 8
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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 RCV000152608 SCV000201905 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Arg1948Arg in Exon 29 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 25/ 66592 of Europ ean (Non-Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org/; dbSNP rs147930567).
Counsyl RCV000664977 SCV000789023 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2016-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000841270 SCV000983229 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing
Invitae RCV000841270 SCV001068268 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000841270 SCV004125615 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003453133 SCV004181753 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826817 SCV004181754 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826817 SCV002091558 likely benign Usher syndrome type 2A 2019-12-08 no assertion criteria provided clinical testing

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