Submissions for variant NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)

dbSNP: rs756800816

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729389	SCV000857046	likely benign	not specified	2017-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879855	SCV001022910	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002493314	SCV002801898	likely benign	Dermatofibrosis lenticularis disseminata	2021-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000879855	SCV004135458	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	LEMD3: BS1
OMIM	RCV001194667	SCV001364406	pathogenic	OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS	2020-06-22	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003928221	SCV004745754	likely benign	LEMD3-related disorder	2019-05-22	no assertion criteria provided	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).