ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)

gnomAD frequency: 0.00006  dbSNP: rs139847770
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Total submissions: 5
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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 RCV000215547 SCV000271159 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing p.Ile4837Ile in Exon 66 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 2/6673 8 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs139847770).
Counsyl RCV000665034 SCV000789090 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000912131 SCV001057220 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454578 SCV004183053 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454577 SCV004183054 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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