ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) (rs200241260)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725570 SCV000337881 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000325043 SCV000725053 likely benign not specified 2017-11-17 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 RCV000725570 SCV001035420 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725570 SCV001142940 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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