ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) (rs544077645)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514645 SCV000610396 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV000514645 SCV001073188 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075116 SCV001240727 uncertain significance Retinal dystrophy 2018-08-21 criteria provided, single submitter clinical testing

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