ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9477G>A (p.Thr3159=)

gnomAD frequency: 0.00001  dbSNP: rs777032531
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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 RCV000615823 SCV000731669 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing p.Thr3159Thr in exon 44 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 1/30750 Sout h Asian and 1/33510 Latino chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org; dbSNP rs777032531).
Invitae RCV003767746 SCV004632344 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing

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