ClinVar Miner

Submissions for variant NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)

gnomAD frequency: 0.02383  dbSNP: rs7080536
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286268 SCV000360509 likely benign Factor VII Marburg I Variant Thrombophilia 2018-03-06 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 RCV001753406 SCV002005617 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21789270, 26691890, 22421107, 27873212, 22906531, 26222560, 28089742, 17145954, 26745718, 19105210, 26832773, 12578864, 28222214, 28418605, 28884020, 28402931, 30070759, 32162184, 33025555, 33488516)
OMIM RCV000006338 SCV000026520 benign FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM 2015-11-19 no assertion criteria provided literature only
OMIM RCV000006340 SCV000026522 risk factor Venous thromboembolism, susceptibility to 2015-11-19 no assertion criteria provided literature only
OMIM RCV000190487 SCV000245359 risk factor THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO 2015-11-19 no assertion criteria provided literature only

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