Submissions for variant NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)

gnomAD frequency: 0.00068  dbSNP: rs142974468

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725321	SCV000336044	uncertain significance	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317139	SCV000467850	uncertain significance	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000371708	SCV000467851	uncertain significance	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000359228	SCV000519891	likely benign	not specified	2017-10-16	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	RCV001079558	SCV000769881	likely benign	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725321	SCV004010752	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	DNAJB6: BS2
PreventionGenetics, part of Exact Sciences	RCV003930085	SCV004740870	likely benign	DNAJB6-related disorder	2022-01-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).