Submissions for variant NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)

gnomAD frequency: 0.00456  dbSNP: rs143872329

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176415	SCV000228069	benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV000989750	SCV000641383	likely benign	Myopathy, proximal, and ophthalmoplegia	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585066	SCV000692895	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH2: PP3, BS1, BS2
Mendelics	RCV000989750	SCV001140295	benign	Myopathy, proximal, and ophthalmoplegia	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989750	SCV001279370	likely benign	Myopathy, proximal, and ophthalmoplegia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000585066	SCV001940817	benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24082139, 15741996, 32140910)