ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)

gnomAD frequency: 0.00001  dbSNP: rs373902384
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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) RCV000724820 SCV000232315 uncertain significance not provided 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000724820 SCV000722859 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Invitae RCV000724820 SCV001058329 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947535 SCV004760302 likely benign ADGRV1-related condition 2023-10-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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