ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)

gnomAD frequency: 0.00372  dbSNP: rs45586138
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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) RCV000333353 SCV000336696 benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349858 SCV000365113 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 RCV000349858 SCV000638714 benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000859648 SCV001144338 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000859648 SCV001820420 likely benign not provided 2022-09-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000859648 SCV001961231 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000859648 SCV001928631 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000859648 SCV001964873 likely benign not provided no assertion criteria provided clinical testing

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