Submissions for variant NM_201384.3(PLEC):c.2551G>A (p.Val851Met)

gnomAD frequency: 0.00164  dbSNP: rs200647397

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712729	SCV000335982	uncertain significance	not provided	2015-12-17	criteria provided, single submitter	clinical testing
Invitae	RCV001089444	SCV000650212	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	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000712729	SCV000730766	likely benign	not provided	2018-11-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712729	SCV000843251	benign	not provided	2019-06-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712729	SCV004156388	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	PLEC: BS2
PreventionGenetics, part of Exact Sciences	RCV003947493	SCV004769270	likely benign	PLEC-related condition	2020-03-23	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).