ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)

dbSNP: rs41302834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382480 SCV000341383 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV000382480 SCV001406542 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001374879 SCV001572155 uncertain significance Usher syndrome type 2C 2021-04-08 criteria provided, single submitter research The ADGRV1 c.5830G>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, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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