ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)

gnomAD frequency: 0.00245  dbSNP: rs12941197
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250308 SCV000308924 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000874596 SCV001016788 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874596 SCV001151212 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MYH3: BS2
Illumina Laboratory Services, Illumina RCV001118120 SCV001276383 benign Freeman-Sheldon syndrome 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001118121 SCV001276384 benign Distal arthrogryposis type 2B1 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000874596 SCV001846283 benign not provided 2020-03-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503937 SCV002805898 likely benign Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-08-26 criteria provided, single submitter clinical testing

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