Submissions for variant NM_201384.3(PLEC):c.174+10del

gnomAD frequency: 0.00134  dbSNP: rs528031000

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723803	SCV000203313	uncertain significance	not provided	2018-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000723803	SCV000569227	likely benign	not provided	2018-04-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000153746	SCV000614615	likely benign	not specified	2017-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV001080335	SCV000650208	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	2024-01-26	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723803	SCV002036774	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723803	SCV002038488	likely benign	not provided		no assertion criteria provided	clinical testing