ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)

gnomAD frequency: 0.00001  dbSNP: rs397517442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000039657 SCV000063346 likely benign not specified 2013-06-21 criteria provided, single submitter clinical testing Leu2980Leu in exon 41 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Eurofins NTD LLC (GA) RCV000726062 SCV000341627 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV000726062 SCV001649426 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing

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