ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)

gnomAD frequency: 0.00068  dbSNP: rs139480342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195045 SCV000248112 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127113 SCV001286394 uncertain significance Distal arthrogryposis type 2B1 2017-04-27 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001522905 SCV001732538 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955162 SCV004767198 likely benign MYH3-related condition 2019-07-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Yale Center for Mendelian Genomics, Yale University RCV000662290 SCV000784618 likely pathogenic Rhabdomyolysis 2017-08-05 no assertion criteria provided literature only

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