ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2734+8A>G

gnomAD frequency: 0.00013  dbSNP: rs371906040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000195232 SCV000247503 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000726363 SCV000344102 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000195232 SCV000711040 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing c.2734+8A>G in Intron 14 of GPR98: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 10/23230 African chromosomes by the Genome Agg regation Database (gnomAD,; dbSNP rs371906040). ACMG/AMP criteria applied: BP7.
Invitae RCV000726363 SCV001036427 likely benign not provided 2021-11-28 criteria provided, single submitter clinical testing

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