ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3853+7C>T (rs45467397)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758059 SCV000564468 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3853+7C>T variant in the MYH7 gene is 0.32% (239/66734) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035870 SCV000059521 benign not specified 2016-07-21 criteria provided, single submitter clinical testing c.3853+7C>T in intron 28 of MYH7: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.4% (239/66734) of European chromsomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45467397).
Invitae RCV000205004 SCV000262406 benign Hypertrophic cardiomyopathy 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035870 SCV000303228 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285489 SCV000386022 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323984 SCV000386023 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376212 SCV000386024 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284144 SCV000386025 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346163 SCV000386026 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205004 SCV000386027 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416237 SCV000493186 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing

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