ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8730+10_8730+11insC (rs377585302)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039653 SCV000063342 benign not specified 2014-11-07 criteria provided, single submitter clinical testing c.8730+10_8730+11insC in intron 38 of GPR98: This variant is not expected to hav e clinical significance because it has been identified in 4.2% (15/358) of Latin American (Puerto Rican, Mexican-American, Columbian) chromosomes and 2.4% (14/5 72) of East Asian (Chinese and Japanese) chromosomes by the 1000 Genomes Project (dbSNP rs377585302).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039653 SCV000229921 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000039653 SCV000729788 benign not specified 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000991490 SCV001142942 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Invitae RCV000991490 SCV001720772 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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