Submissions for variant NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)

gnomAD frequency: 0.00001  dbSNP: rs751337133

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002233963	SCV000755921	benign	Ehlers-Danlos syndrome, classic type, 1	2022-08-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000634591	SCV000897495	uncertain significance	Ehlers-Danlos syndrome, classic type	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001766354	SCV002008819	uncertain significance	not provided	2021-03-30	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 529245; Landrum et al., 2016)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279456	SCV002565670	uncertain significance	Ehlers-Danlos syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001766354	SCV003833735	uncertain significance	not provided	2022-09-02	criteria provided, single submitter	clinical testing