Submissions for variant NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)

gnomAD frequency: 0.00093  dbSNP: rs144242254

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000585322	SCV000337903	uncertain significance	not provided	2017-02-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000585322	SCV000528229	likely benign	not provided	2020-05-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000177614	SCV000614650	benign	not specified	2016-08-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084155	SCV000650385	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	2024-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585322	SCV000693285	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000585322	SCV001925805	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585322	SCV001972228	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000585322	SCV002036005	likely benign	not provided		no assertion criteria provided	clinical testing