ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)

dbSNP: rs527236139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074265 SCV001239838 uncertain significance Retinal dystrophy 2019-05-14 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376388 SCV001573509 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.11156G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Genome-Nilou Lab RCV001376388 SCV004182134 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455351 SCV004182135 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376388 SCV005055763 pathogenic Retinitis pigmentosa 39 2023-12-12 criteria provided, single submitter clinical testing

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