ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) (rs752992414)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672902 SCV000798054 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV001047811 SCV001211793 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing This variant, c.5438_5443del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the USH2A protein (p.Ser1813_Ser1815delinsCys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 556843). 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.
Blueprint Genetics RCV001074368 SCV001239944 uncertain significance Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing

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