ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)

dbSNP: rs1396847135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671559 SCV000796546 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531289 SCV003007751 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This variant, c.313_321del, results in the deletion of 3 amino acid(s) of the USH2A protein (p.Leu105_Ser107del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 555694). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome-Nilou Lab RCV003453325 SCV004182988 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453324 SCV004182989 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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