ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)

gnomAD frequency: 0.00137  dbSNP: rs373069459
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Total submissions: 5
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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 RCV000150764 SCV000198241 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu2696Leu in Exon 34 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (20/3106) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Eurofins NTD LLC (GA) RCV000150764 SCV000334114 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000710463 SCV000714339 benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710463 SCV000840688 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000710463 SCV001056121 benign not provided 2021-12-02 criteria provided, single submitter clinical testing

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