Submissions for variant NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)

gnomAD frequency: 0.01638  dbSNP: rs58073789

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516647	SCV001724957	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001516647	SCV001856780	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253469	SCV002524849	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499147	SCV002524860	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253468	SCV002524871	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516647	SCV005290292	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499147	SCV000588993	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001516647	SCV001798530	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701022	SCV001924499	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701022	SCV001953325	benign	not specified		no assertion criteria provided	clinical testing