ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)

dbSNP: rs2102470142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376280 SCV001573366 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.7415A>C 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.
DBGen Ocular Genomics RCV001376280 SCV001816031 likely pathogenic Retinitis pigmentosa 39 2021-06-23 criteria provided, single submitter clinical testing

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