ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17856+10C>T

gnomAD frequency: 0.00018  dbSNP: rs371949377
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Total submissions: 2
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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 RCV000222476 SCV000270234 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 17856+10C>T in Intron 83 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 0.1% (2/3128) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).
Invitae RCV001430241 SCV001632973 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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