ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)

gnomAD frequency: 0.00067  dbSNP: rs200946170
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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) RCV000724340 SCV000231290 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000179095 SCV000711051 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing p.Leu3521Leu in exon 51 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.2% (57/24008) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b; dbSNP rs200946170).
GeneDx RCV000724340 SCV000968688 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Invitae RCV000724340 SCV001032236 benign not provided 2021-09-24 criteria provided, single submitter clinical testing

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