ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) (rs112030253)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597384 SCV000704792 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
Counsyl RCV000512621 SCV000796768 uncertain significance Alpha-1-antitrypsin deficiency 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000512621 SCV001001964 likely benign Alpha-1-antitrypsin deficiency 2020-11-02 criteria provided, single submitter clinical testing
Mendelics RCV000512621 SCV001139506 uncertain significance Alpha-1-antitrypsin deficiency 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000512621 SCV001274083 uncertain significance Alpha-1-antitrypsin deficiency 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000512621 SCV000608318 uncertain significance Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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