ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.22+9T>C (rs368604803)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173536 SCV000224658 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000173536 SCV000602452 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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 2018-10-29 criteria provided, single submitter clinical testing

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