Submissions for variant NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)

dbSNP: rs199758196

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725424	SCV000336850	uncertain significance	not provided	2017-11-13	criteria provided, single submitter	clinical testing
Invitae	RCV001081883	SCV000650462	likely benign	Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000725424	SCV000715958	likely benign	not provided	2019-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725424	SCV001155510	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003909959	SCV004722875	likely benign	PLEC-related condition	2023-11-14	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000725424	SCV001799921	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725424	SCV001963967	uncertain significance	not provided		no assertion criteria provided	clinical testing