ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)

gnomAD frequency: 0.00605  dbSNP: rs77602559
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173273 SCV000224370 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173273 SCV000247661 benign not specified 2019-06-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298996 SCV000365141 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 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.
Invitae RCV000298996 SCV000638719 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173273 SCV001476648 benign not specified 2020-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001706119 SCV001846694 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19266219)
CeGaT Center for Human Genetics Tuebingen RCV001706119 SCV002563019 benign not provided 2023-11-01 criteria provided, single submitter clinical testing KCNMA1: PP2, BS1, BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252028 SCV001427775 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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