ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) (rs121912712)

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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 RCV000597262 SCV000703710 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
Invitae RCV000201867 SCV001007097 likely benign Alpha-1-antitrypsin deficiency 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000201867 SCV001277336 uncertain significance Alpha-1-antitrypsin deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000019564 SCV000039861 other PI CHRISTCHURCH 2016-07-15 no assertion criteria provided literature only
GeneReviews RCV000201867 SCV000256616 benign Alpha-1-antitrypsin deficiency 2014-05-01 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000201867 SCV000608299 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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