Submissions for variant NM_000088.4(COL1A1):c.1983+9G>C

gnomAD frequency: 0.00029  dbSNP: rs201091992

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516999	SCV000612895	benign	not specified	2016-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000516999	SCV000729086	likely benign	not specified	2018-02-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000631506	SCV000752588	benign	Osteogenesis imperfecta type I	2024-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001127683	SCV001287020	benign	Osteogenesis imperfecta	2017-05-14	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001127684	SCV001287021	likely benign	Infantile cortical hyperostosis	2017-05-14	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001127685	SCV001287022	benign	Ehlers-Danlos syndrome, arthrochalasia type	2017-05-14	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001127683	SCV002565141	likely benign	Osteogenesis imperfecta	2022-05-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279302	SCV002565482	likely benign	Ehlers-Danlos syndrome	2021-11-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736801	SCV004562145	benign	not provided	2023-03-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003736801	SCV004700710	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	COL1A1: BS1