Submissions for variant NC_000002.11:g.(?_127806102)_(128432598_?)del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001928002	SCV002179817	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2W	2022-06-27	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the LIMS2 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LIMS2 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with LIMS2-related conditions.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001916346	SCV002229624	uncertain significance	Myopathy, centronuclear, 2	2022-06-27	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with BIN1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the BIN1 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in BIN1 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.