ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2241-10A>T

gnomAD frequency: 0.00047  dbSNP: rs150996234
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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 RCV000156853 SCV000206574 benign not specified 2014-10-17 criteria provided, single submitter clinical testing c.2241-10A>T in intron 11 of GPR98: This variant is not expected to have clinica l significance because it does not cause the splice site sequence to diverge fro m consensus. It has been identified in 5.1% (9/178) of Japanese chromosomes and 1.0% (2/194) of Han Chinese chromosomes by the 1000 Genomes Project (dbSNP rs150 996234).
GeneDx RCV000710443 SCV000717996 benign not provided 2019-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710443 SCV000840661 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710443 SCV001047572 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154173 SCV001315508 likely benign Usher syndrome type 2C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV002492605 SCV002795992 likely benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-07-20 criteria provided, single submitter clinical testing

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