ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)

gnomAD frequency: 0.00029  dbSNP: rs373352597
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Total submissions: 3
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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 RCV000039631 SCV000063320 likely benign not specified 2010-12-06 criteria provided, single submitter clinical testing Thr2523Thr in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Eurofins NTD LLC (GA) RCV000726325 SCV000343808 uncertain significance not provided 2018-02-10 criteria provided, single submitter clinical testing
Invitae RCV000726325 SCV001112961 likely benign not provided 2021-11-04 criteria provided, single submitter clinical testing

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