ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)

gnomAD frequency: 0.00068  dbSNP: rs138393827
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246896 SCV000312845 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000525717 SCV000641402 benign Myopathy, proximal, and ophthalmoplegia 2024-01-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000246896 SCV000862859 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000525717 SCV001273739 benign Myopathy, proximal, and ophthalmoplegia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001706354 SCV001811788 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000525717 SCV000882601 likely pathogenic Myopathy, proximal, and ophthalmoplegia 2018-10-08 flagged submission clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246896 SCV002034305 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001706354 SCV002035654 likely benign not provided no assertion criteria provided clinical testing

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