Submissions for variant NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557955	SCV000627256	likely benign	Osteogenesis imperfecta type I	2023-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001568011	SCV001791800	likely benign	not provided	2020-01-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279335	SCV002565528	likely benign	Ehlers-Danlos syndrome	2022-03-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358440	SCV002621100	benign	Cardiovascular phenotype	2022-05-04	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001568011	SCV004564175	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing

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