ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)

gnomAD frequency: 0.00488  dbSNP: rs12073994
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Total submissions: 7
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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 RCV000041681 SCV000065377 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asn3617Asn in Exon 55 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.7% (62/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs12073994)."
GeneDx RCV000041681 SCV000169758 benign not specified 2013-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000041681 SCV000317186 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000964832 SCV001112075 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504921 SCV002803349 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450743 SCV004182170 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450742 SCV004182171 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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