ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) (rs137853918)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146072 SCV000193249 uncertain significance Febrile seizures, familial, 4 2014-03-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155120 SCV000204806 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala6091Ala in Exon 86 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (38/6802) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (; dbSNP rs148171369).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155120 SCV000232863 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000155120 SCV000612278 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000086994 SCV000980354 benign not provided 2019-07-29 criteria provided, single submitter clinical testing
Invitae RCV000086994 SCV001033680 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157758 SCV001319356 likely benign Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086994 SCV000119247 not provided not provided no assertion provided not provided
Clinical Genetics,Academic Medical Center RCV000155120 SCV001926006 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000086994 SCV001927378 likely benign not provided no assertion criteria provided clinical testing

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