Submissions for variant NM_058246.4(DNAJB6):c.176-20A>G

gnomAD frequency: 0.05106  dbSNP: rs28377945

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249775	SCV000315335	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000249775	SCV000519275	benign	not specified	2016-02-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058388	SCV002423792	benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795466	SCV005269534	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000249775	SCV002034588	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795466	SCV002035562	likely benign	not provided		no assertion criteria provided	clinical testing