ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)

gnomAD frequency: 0.03987  dbSNP: rs77117049
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147512 SCV000194949 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000147512 SCV000232306 benign not specified 2014-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147512 SCV000306986 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342517 SCV000374622 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000469558 SCV000560572 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312659 SCV000846598 benign Inborn genetic diseases 2016-03-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001539020 SCV001756747 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539020 SCV005319611 benign not provided criteria provided, single submitter not provided

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