Submissions for variant NM_001171.6(ABCC6):c.1338+20C>G

dbSNP: rs12929920

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522447	SCV001731993	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548802	SCV001768766	benign	Arterial calcification, generalized, of infancy, 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499354	SCV001768767	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548803	SCV001768768	benign	Pseudoxanthoma elasticum, forme fruste	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001522447	SCV001902797	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522447	SCV005290311	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499354	SCV000589143	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528303	SCV001739821	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001528303	SCV001921028	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528303	SCV001951356	benign	not specified		no assertion criteria provided	clinical testing