ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)

gnomAD frequency: 0.00012  dbSNP: rs368806892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074289 SCV001239862 uncertain significance Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334323 SCV001527135 uncertain significance Usher syndrome type 2C 2018-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001862549 SCV002280425 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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