ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)

dbSNP: rs1665478442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074249 SCV001239822 uncertain significance Retinal dystrophy 2019-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554706 SCV003004106 uncertain significance not provided 2022-06-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 866343). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.7340_7348del, results in the deletion of 3 amino acid(s) of the USH2A protein (p.Thr2447_Thr2449del), but otherwise preserves the integrity of the reading frame.
Genome-Nilou Lab RCV003455348 SCV004183270 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455347 SCV004183271 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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