Submissions for variant NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)

gnomAD frequency: 0.00191  dbSNP: rs149278319

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000400694	SCV000331969	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000548101	SCV000467832	likely benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000341832	SCV000467833	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001573406	SCV000524871	benign	not provided	2020-03-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548101	SCV000649790	likely benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2025-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000400694	SCV001476400	benign	not specified	2020-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573406	SCV004159362	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	DNAJB6: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000400694	SCV006071417	benign	not specified	2025-03-25	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573406	SCV001799246	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573406	SCV001931861	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573406	SCV001969544	likely benign	not provided		no assertion criteria provided	clinical testing