ClinVar Miner

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

gnomAD frequency: 0.06843  dbSNP: rs377585302
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Total submissions: 6
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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 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).
Eurofins Ntd Llc (ga) RCV000039653 SCV000229921 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000991490 SCV000729788 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000991490 SCV001142942 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991490 SCV001720772 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496636 SCV002808311 benign Usher syndrome type 2C; Febrile seizures, familial, 4 2022-03-28 criteria provided, single submitter clinical testing

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