ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.705A>G (p.Gln235=)

gnomAD frequency: 0.00002  dbSNP: rs372853480
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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 RCV000606944 SCV000711034 likely benign not specified 2017-12-05 criteria provided, single submitter clinical testing p.Gln235Gln in exon 7 of ADGRV1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 5/97140 European ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; dbSNP rs372853480).
Invitae RCV001055119 SCV001219489 likely benign not provided 2023-05-27 criteria provided, single submitter clinical testing

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