Submissions for variant NM_001171.6(ABCC6):c.1338+7C>G

gnomAD frequency: 0.75013  dbSNP: rs9940089

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519011	SCV001727811	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548804	SCV001768769	benign	Arterial calcification, generalized, of infancy, 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499219	SCV001768770	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548805	SCV001768771	benign	Pseudoxanthoma elasticum, forme fruste	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001519011	SCV001902327	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519011	SCV005290312	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499219	SCV000589142	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001700133	SCV001920863	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001700133	SCV001962992	benign	not specified		no assertion criteria provided	clinical testing