Submissions for variant NM_000393.5(COL5A2):c.906+9A>G

gnomAD frequency: 0.00011  dbSNP: rs761662868

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002235164	SCV001007069	likely benign	Ehlers-Danlos syndrome, classic type, 1	2023-10-28	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003227873	SCV003924173	likely benign	Ehlers-Danlos syndrome, classic type, 2	2021-03-30	criteria provided, single submitter	clinical testing	COL5A2 NM_000393.4 exon 13 c.906+9A>G: This variant has not been reported in the literature but is present in 0.01% (8/41404) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189080981-T-C?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:698570). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323747	SCV004028667	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918377	SCV004727834	likely benign	COL5A2-related disorder	2020-06-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).