Submissions for variant NM_013382.7(POMT2):c.1332+6_1332+9del

dbSNP: rs781093215

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727621	SCV000854887	uncertain significance	not provided	2018-02-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086406	SCV001015602	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000727621	SCV001758936	uncertain significance	not provided	2022-10-21	criteria provided, single submitter	clinical testing	In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000727621	SCV002545195	uncertain significance	not provided	2022-09-01	criteria provided, single submitter	clinical testing	POMT2: PP3
Ambry Genetics	RCV002533078	SCV003547821	uncertain significance	Inborn genetic diseases	2023-11-01	criteria provided, single submitter	clinical testing	The c.1332+6_1332+9delTAAG alteration is located 6 bp downstream of exon 12 of the POMT2 gene. This alteration consists of a deletion of 4 nucleotides. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.