Submissions for variant NM_001171.6(ABCC6):c.4208+9G>A

gnomAD frequency: 0.01119  dbSNP: rs58760581

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516646	SCV001724956	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001516646	SCV001945087	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253489	SCV002524173	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499061	SCV002524228	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253488	SCV002524239	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516646	SCV005290259	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499061	SCV000589158	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001700196	SCV001923294	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700196	SCV001951902	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001516646	SCV001974045	likely benign	not provided		no assertion criteria provided	clinical testing