Submissions for variant NM_002474.3(MYH11):c.1402-12C>G

gnomAD frequency: 0.00001  dbSNP: rs769036516

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000773800	SCV000907500	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-02-28	criteria provided, single submitter	clinical testing	This variant causes a C to G nucleotide substitution at the -12 position of intron 13 of the MYH11 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 2/251426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002534097	SCV003439723	likely benign	Aortic aneurysm, familial thoracic 4	2024-03-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700304	SCV001927008	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700304	SCV001964853	uncertain significance	not provided		no assertion criteria provided	clinical testing