ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2241-19G>T

gnomAD frequency: 0.17743  dbSNP: rs1344030
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125298 SCV000168742 benign not specified 2013-01-08 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.
Preventiongenetics, part of Exact Sciences RCV000125298 SCV000314861 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511673 SCV001718955 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701517 SCV001933911 benign Usher syndrome type 2C 2021-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000125298 SCV001742382 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125298 SCV001953974 benign not specified no assertion criteria provided clinical testing

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