Submissions for variant NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)

gnomAD frequency: 0.00490  dbSNP: rs181736584

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000761918	SCV000892139	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	ACAN: BS1, BS2
Invitae	RCV000761918	SCV002338298	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253603	SCV002524280	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	RCV002253602	SCV002524281	benign	Spondyloepimetaphyseal dysplasia, aggrecan type	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253601	SCV002524282	benign	Spondyloepiphyseal dysplasia, Kimberley type	2021-12-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000761918	SCV001799299	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724149	SCV001956822	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724149	SCV001971709	benign	not specified		no assertion criteria provided	clinical testing