ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)

gnomAD frequency: 0.00004  dbSNP: rs200934092
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Total submissions: 6
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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 RCV000041753 SCV000065449 likely benign not specified 2012-01-27 criteria provided, single submitter clinical testing Cys4728Cys in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Counsyl RCV000666988 SCV000791372 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000977632 SCV001125551 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000977632 SCV004125594 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003450785 SCV004183094 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450784 SCV004183095 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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