Submissions for variant NM_000093.5(COL5A1):c.1390-18CT[3]

dbSNP: rs863223441

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000195808	SCV000249787	benign	not specified	2015-03-03	criteria provided, single submitter	clinical testing	This variant was found in TAAD
PreventionGenetics, part of Exact Sciences	RCV000195808	SCV000302137	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054290	SCV002468445	benign	Ehlers-Danlos syndrome, classic type, 1	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002054290	SCV002554089	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270011	SCV002554090	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000195808	SCV004122291	benign	not specified	2023-10-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579643	SCV001807997	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579643	SCV001928106	likely benign	not provided		no assertion criteria provided	clinical testing