ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.22+9T>C

gnomAD frequency: 0.00236  dbSNP: rs368604803
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000173536 SCV000224658 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000710442 SCV000602452 benign not provided 2020-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000173536 SCV000711033 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing c.22+9T>C in intron 01 of GPR98: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.9% (18/2005) of African American chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368604803).
Athena Diagnostics Inc RCV000710442 SCV000840660 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000710442 SCV001037496 benign not provided 2021-12-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000173536 SCV001925099 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710442 SCV001970113 likely benign not provided no assertion criteria provided clinical testing

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