ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)

gnomAD frequency: 0.00060  dbSNP: rs199833843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394411 SCV000345471 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765847 SCV000897243 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000394411 SCV000967915 likely benign not provided 2018-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000394411 SCV001395403 benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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