Submissions for variant NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)

gnomAD frequency: 0.00001  dbSNP: rs1135057

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724315	SCV000229864	uncertain significance	not provided	2014-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000177905	SCV000714952	benign	not specified	2017-09-21	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	RCV000724315	SCV001731114	benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277396	SCV002566396	likely benign	Connective tissue disorder	2021-05-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177905	SCV001925854	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724315	SCV001976340	likely benign	not provided		no assertion criteria provided	clinical testing