Submissions for variant NM_001171.6(ABCC6):c.2904G>A (p.Leu968=)

gnomAD frequency: 0.00087  dbSNP: rs72664287

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000436842	SCV000511918	benign	not specified	2015-05-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886260	SCV001029760	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886260	SCV001961579	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ABCC6: BP4, BP7
Genome-Nilou Lab	RCV002253403	SCV002524583	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499097	SCV002524594	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253402	SCV002524605	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
PXE International	RCV000499097	SCV000589035	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000436842	SCV001921134	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000886260	SCV001965558	likely benign	not provided		no assertion criteria provided	clinical testing