Submissions for variant NM_001171.6(ABCC6):c.1284C>T (p.Asn428=)

gnomAD frequency: 0.00245  dbSNP: rs57499497

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000762214	SCV000892488	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ABCC6: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV000762214	SCV001117465	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253606	SCV002524207	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253604	SCV002524218	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253605	SCV002524223	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000762214	SCV001743673	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700456	SCV001921992	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762214	SCV001969410	likely benign	not provided		no assertion criteria provided	clinical testing