Submissions for variant NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)

gnomAD frequency: 0.00262  dbSNP: rs190361551

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000374956	SCV000336199	benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000909439	SCV001054245	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253350	SCV002524355	benign	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253349	SCV002524356	benign	Spondyloepimetaphyseal dysplasia, aggrecan type	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253348	SCV002524357	benign	Spondyloepiphyseal dysplasia, Kimberley type	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000909439	SCV004137586	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ACAN: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000909439	SCV005294790	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000909439	SCV002036673	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000909439	SCV002037548	likely benign	not provided		no assertion criteria provided	clinical testing