Submissions for variant NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser)

gnomAD frequency: 0.00146  dbSNP: rs202040785

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177696	SCV000335984	benign	not specified	2017-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087890	SCV000650182	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	2025-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000712720	SCV000730765	likely benign	not provided	2018-11-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712720	SCV000843242	benign	not provided	2019-06-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712720	SCV005222276	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004539657	SCV004760871	likely benign	PLEC-related disorder	2020-09-25	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).