ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)

gnomAD frequency: 0.00081  dbSNP: rs150286388
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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 RCV000155319 SCV000205005 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr4918Thr in Exon 67 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 0.3% (10/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150286388).
Invitae RCV000922199 SCV001067624 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453165 SCV004182990 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453164 SCV004183001 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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