Submissions for variant NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

gnomAD frequency: 0.00120  dbSNP: rs188739870

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177694	SCV000336369	likely benign	not specified	2017-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512985	SCV000609325	uncertain significance	not provided	2017-03-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000512985	SCV000614664	benign	not provided	2018-12-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082161	SCV000650469	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
GeneDx	RCV000512985	SCV000723250	likely benign	not provided	2021-06-08	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000512985	SCV001742997	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000512985	SCV001927963	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000512985	SCV001975597	likely benign	not provided		no assertion criteria provided	clinical testing