ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)

gnomAD frequency: 0.00004  dbSNP: rs886050418
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360417 SCV000385992 uncertain significance Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266219 SCV000385993 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302577 SCV000385994 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366572 SCV000385995 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271995 SCV000385996 uncertain significance MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320159 SCV000385997 uncertain significance Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622162 SCV000740069 likely benign Cardiovascular phenotype 2016-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001184782 SCV001350849 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000366572 SCV001681493 likely benign Hypertrophic cardiomyopathy 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001660631 SCV001873497 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184782 SCV004819237 likely benign Cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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