Submissions for variant NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)

gnomAD frequency: 0.00306  dbSNP: rs142066316

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242013	SCV000308407	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000242013	SCV000855982	likely benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974489	SCV001122312	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000974489	SCV001143297	benign	not provided	2019-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000974489	SCV001768606	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30467950)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278160	SCV002566428	benign	Connective tissue disorder	2021-03-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000974489	SCV004564764	likely benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000974489	SCV004698555	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	COL9A3: BS2