ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2167+4C>T (rs200638562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041808 SCV000065504 uncertain significance not specified 2011-06-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2167+4C>T varia nt in USH2A has not been reported in the literature nor previously identified by our laboratory. This variant is located in the 5' splice region but does not af fect the invariant +1 and +2 positions. Although position +4 is part of the spli ce site region, the reference sequence was already divergent from consensus (nor mally an A at this position) and therefore this variant is less likely to disrup t splicing. In summary, the clinical significance of this variant cannot be dete rmined with certainty at this time; however, given that there is currently no ev idence to suggest this variant is pathogenic, we would lean towards a more likel y benign role.
Counsyl RCV000666387 SCV000790670 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-31 criteria provided, single submitter clinical testing

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