Submissions for variant NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)

gnomAD frequency: 0.01848  dbSNP: rs34119578

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243183	SCV000308350	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000243183	SCV000714083	benign	not specified	2016-12-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000961147	SCV001108178	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000961147	SCV001143283	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277627	SCV002566395	benign	Connective tissue disorder	2022-02-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494734	SCV002798581	likely benign	Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4	2021-10-25	criteria provided, single submitter	clinical testing