Submissions for variant NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=)

gnomAD frequency: 0.00218  dbSNP: rs147447646

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155170	SCV000204856	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Leu1743Leu in Exon 37 of MYH14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.4% (29/6782) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs147447646).
PreventionGenetics, part of Exact Sciences	RCV000155170	SCV000306872	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384800	SCV000414449	likely benign	Autosomal dominant nonsyndromic hearing loss 4A	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000953094	SCV000714006	likely benign	not provided	2020-11-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953094	SCV001099644	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953094	SCV002543969	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	MYH14: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000953094	SCV005205865	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000953094	SCV001924543	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000953094	SCV001967193	likely benign	not provided		no assertion criteria provided	clinical testing