ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5409C>G (p.Val1803=)

gnomAD frequency: 0.00070  dbSNP: rs140326085
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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 RCV000041858 SCV000065554 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing p.Val1803Val in exon 27 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 0.1% (148/126184) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org/; dbSNP rs140326085).
Invitae RCV000879979 SCV001023037 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000879979 SCV001830569 likely benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041858 SCV002819805 likely benign not specified 2022-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879979 SCV004125617 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003450852 SCV004181811 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276248 SCV004181812 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276248 SCV001462256 likely benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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