ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)

gnomAD frequency: 0.69723  dbSNP: rs2285477
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117670 SCV000151902 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000117670 SCV000308928 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259987 SCV000400361 benign Freeman-Sheldon 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 RCV000317596 SCV000400362 benign Distal arthrogryposis type 2B1 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.
GeneDx RCV001675623 SCV001892140 benign not provided 2019-09-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32315303)
Genome-Nilou Lab RCV000259987 SCV002015829 benign Freeman-Sheldon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778728 SCV002015940 benign Arthrogryposis, distal, type 2B3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778727 SCV002016051 benign Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778729 SCV002016124 benign Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001675623 SCV002349303 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117670 SCV001741974 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000117670 SCV001919835 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117670 SCV001956108 benign not specified no assertion criteria provided clinical testing

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