ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) (rs201089795)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000477165 SCV000242947 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398937 SCV000374623 likely benign Early myoclonic encephalopathy 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 RCV001083871 SCV000560576 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718878 SCV000849742 benign Seizures 2017-05-31 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000477165 SCV001145655 likely benign not provided 2019-01-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000477165 SCV001148132 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing

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