Submissions for variant NM_001854.4(COL11A1):c.1792-39ATG[11]

dbSNP: rs71752747

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327589	SCV000346523	uncertain significance	Marshall syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384516	SCV000346524	uncertain significance	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287893	SCV000346525	uncertain significance	Fibrochondrogenesis 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000153075	SCV000570363	benign	not provided	2020-02-28	criteria provided, single submitter	clinical testing
Invitae	RCV000153075	SCV001117609	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277301	SCV002566583	benign	Connective tissue disorder	2020-03-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000153075	SCV004564698	benign	not provided	2023-09-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000153075	SCV000202531	uncertain significance	not provided	2014-04-24	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000153075	SCV001806944	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000483453	SCV001925835	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000483453	SCV001973297	benign	not specified		no assertion criteria provided	clinical testing