Submissions for variant NM_001369268.1(ACAN):c.1221C>T (p.Val407=)

gnomAD frequency: 0.06383  dbSNP: rs16942341

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573986	SCV001845564	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573986	SCV002409017	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253871	SCV002524277	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	RCV002253870	SCV002524278	benign	Spondyloepimetaphyseal dysplasia, aggrecan type	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253869	SCV002524279	benign	Spondyloepiphyseal dysplasia, Kimberley type	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573986	SCV005292542	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573986	SCV001800644	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724366	SCV001954620	benign	not specified		no assertion criteria provided	clinical testing