Submissions for variant NM_058246.4(DNAJB6):c.899-6C>T

gnomAD frequency: 0.00601  dbSNP: rs78337193

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213214	SCV000269029	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	899-6C>T in intron 9 of DNAJB6: This variant is not expected to have clinical si gnificance because it has been identified in 1.9% (85/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs78337193).
PreventionGenetics, part of Exact Sciences	RCV000213214	SCV000315337	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265184	SCV000467846	likely benign	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082251	SCV000467847	benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000213214	SCV000525218	benign	not specified	2016-04-20	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.
Invitae	RCV001082251	SCV000649794	benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711473	SCV000841841	benign	not provided	2018-05-16	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000213214	SCV002034380	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711473	SCV002036549	likely benign	not provided		no assertion criteria provided	clinical testing