ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.3348T>C (p.Ile1116=)

gnomAD frequency: 0.14064  dbSNP: rs201626
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117669 SCV000151901 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117669 SCV000308923 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303204 SCV000400373 benign Freeman-Sheldon syndrome 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.
Illumina Laboratory Services, Illumina RCV000355718 SCV000400374 benign Distal arthrogryposis type 2B1 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 RCV001594841 SCV001829687 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Invitae RCV001594841 SCV002408861 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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