ClinVar Miner

Submissions for variant NM_005570.4(LMAN1):c.116T>C (p.Val39Ala)

gnomAD frequency: 0.09631  dbSNP: rs33926449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246141 SCV000311110 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387764 SCV000409835 benign Factor V and factor VIII, combined deficiency of, type 1 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.
GeneDx RCV001610664 SCV001835078 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610664 SCV005313237 benign not provided criteria provided, single submitter not provided

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