ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.297C>T (p.Pro99=) (rs140245862)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758041 SCV000564505 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.297C>T (p.Pro99=) variant in the MYH7 gene is 0.54% (69/10406) of African 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).
Color RCV000758041 SCV000913733 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035837 SCV000339726 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000035837 SCV000170546 benign not specified 2015-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000231766 SCV000386335 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379561 SCV000386336 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286205 SCV000386337 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341111 SCV000386338 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395505 SCV000386339 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282609 SCV000386340 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231766 SCV000284273 benign Hypertrophic cardiomyopathy 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035837 SCV000059488 benign not specified 2016-04-20 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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