ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)

gnomAD frequency: 0.00001  dbSNP: rs147916810
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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 RCV000041779 SCV000065475 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing p.Ser5034Ser in exon 70 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 1/16512 South Asia n and 4/66736 European chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs147916810).
Invitae RCV000980920 SCV001128881 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450813 SCV004181770 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450812 SCV004181781 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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