ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)

gnomAD frequency: 0.00067  dbSNP: rs147037435
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Total submissions: 4
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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 RCV000041758 SCV000065454 likely benign not specified 2011-09-29 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction and is listed in dbSNP with a frequency of 0.1% (5/4552) control chromosomes (rs147037435).
Invitae RCV000952468 SCV001098974 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450791 SCV004183079 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450790 SCV004183081 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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