Submissions for variant NM_001077365.2(POMT1):c.428-21T>C

gnomAD frequency: 0.88267  dbSNP: rs11243404

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243146	SCV000311756	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000833471	SCV000975234	benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001789293	SCV002031739	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789291	SCV002031740	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789292	SCV002031743	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	2021-10-25	criteria provided, single submitter	clinical testing
Invitae	RCV003765532	SCV004573789	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2023-04-23	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000243146	SCV001917376	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243146	SCV001967261	benign	not specified		no assertion criteria provided	clinical testing