ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)

gnomAD frequency: 0.00006  dbSNP: rs147615382
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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 RCV000605472 SCV000711237 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr2294Tyr in Exon 36 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs147615382).
Invitae RCV001504216 SCV001709088 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451359 SCV004181599 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451358 SCV004181600 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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