Submissions for variant NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val)

gnomAD frequency: 0.02501  dbSNP: rs59593133

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514861	SCV001722814	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001514861	SCV001862786	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253473	SCV002524783	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499220	SCV002524794	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253472	SCV002524805	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514861	SCV005290290	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499220	SCV000588996	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001514861	SCV001799553	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700394	SCV001924142	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700394	SCV001951106	benign	not specified		no assertion criteria provided	clinical testing