Submissions for variant NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)

gnomAD frequency: 0.00082  dbSNP: rs148659814

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000843852	SCV000985896	likely benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000843852	SCV001473681	likely benign	not provided	2019-11-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514912	SCV001722874	benign	Osteogenesis imperfecta type I	2025-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372383	SCV002625589	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.
Athena Diagnostics	RCV004997397	SCV005621699	benign	not specified	2024-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549914	SCV004759891	likely benign	COL1A1-related disorder	2024-01-20	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).