ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)

gnomAD frequency: 0.00011  dbSNP: rs200287425
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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 RCV000155852 SCV000205563 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing p.Leu3632Leu in exon 55 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and it has been identified in 13/16512 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs200287425)
Invitae RCV001403829 SCV001605714 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453181 SCV004182159 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453180 SCV004182160 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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