Submissions for variant NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)

gnomAD frequency: 0.00060  dbSNP: rs189557655

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000710783	SCV000516946	likely benign	not provided	2021-03-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25944380, 28391405, 31061748)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000440701	SCV000603114	likely benign	not specified	2019-06-27	criteria provided, single submitter	clinical testing
Invitae	RCV001080558	SCV000627332	benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000710783	SCV000703498	uncertain significance	not provided	2016-12-19	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659368	SCV000781179	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710783	SCV000841087	benign	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159491	SCV001321209	benign	Osteogenesis imperfecta	2017-04-27	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	RCV001159492	SCV001321210	likely benign	Ehlers-danlos syndrome, arthrochalasia type, 2	2017-04-27	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001159491	SCV002564791	likely benign	Osteogenesis imperfecta	2021-04-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278662	SCV002565582	likely benign	Ehlers-Danlos syndrome	2021-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446665	SCV002754115	likely benign	Cardiovascular phenotype	2019-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000710783	SCV001807438	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710783	SCV001968285	likely benign	not provided		no assertion criteria provided	clinical testing