ClinVar Miner

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

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Total submissions: 6
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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 (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 likely benign not provided 2018-06-16 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.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086994 SCV000119247 not provided not provided no assertion provided not provided

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