Submissions for variant NM_006790.3(MYOT):c.981T>C (p.Asn327=)

gnomAD frequency: 0.00133  dbSNP: rs148479015

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000244276	SCV000232245	likely benign	not specified	2016-07-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891747	SCV000311596	benign	MYOT-related disorder	2019-12-16	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000407175	SCV000453004	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297152	SCV000453005	likely benign	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000550832	SCV000453006	likely benign	Myofibrillar myopathy 3	2018-01-12	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	RCV001704856	SCV000531967	likely benign	not provided	2021-10-14	criteria provided, single submitter	clinical testing
Invitae	RCV000550832	SCV000638824	likely benign	Myofibrillar myopathy 3	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000244276	SCV001476562	benign	not specified	2020-06-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000244276	SCV004038172	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704856	SCV004161409	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYOT: BP4, BP7