ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)

gnomAD frequency: 0.00215  dbSNP: rs142281464
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000179519 SCV000231778 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000179519 SCV000248901 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000286760 SCV000406424 likely benign Amish lethal microcephaly 2018-01-12 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.
GeneDx RCV000756637 SCV000521874 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756637 SCV000884511 benign not provided 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV000756637 SCV001121586 benign not provided 2021-11-11 criteria provided, single submitter clinical testing

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