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

Total submissions: 10

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 (http://evs.gs.washington.edu/EVS; 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