ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) (rs61738009)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711316 SCV000331966 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Claritas Genomics RCV000449611 SCV000537841 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV001082234 SCV000651985 likely benign Febrile seizures, familial, 11 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711316 SCV000841657 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000023777 SCV001325623 uncertain significance Epilepsy, familial temporal lobe, 5 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000023777 SCV000045068 pathogenic Epilepsy, familial temporal lobe, 5 2012-12-14 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656014 SCV000588290 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003969 SCV001161978 likely pathogenic Seizures; Focal seizures; Menstrual irregularities; Confusion; Palpitations; Periventricular gray matter heterotopia; Abnormal emotion/affect behavior no assertion criteria provided research

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