ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=)

gnomAD frequency: 0.21073  dbSNP: rs1154226
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241986 SCV000303060 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350792 SCV000407939 benign Laryngo-onycho-cutaneous syndrome 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000386499 SCV000407940 benign Junctional epidermolysis bullosa gravis of Herlitz 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000241986 SCV000539495 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001517324 SCV001725802 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542959 SCV001761385 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000386499 SCV001761386 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350792 SCV001761387 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001517324 SCV001863787 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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