Submissions for variant NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)

gnomAD frequency: 0.00774  dbSNP: rs60712230

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000888186	SCV001031803	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000888186	SCV001902648	benign	not provided	2020-06-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253670	SCV002524716	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253668	SCV002524727	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253669	SCV002524738	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495374	SCV002800249	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2021-07-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000888186	SCV005290281	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001701469	SCV001918250	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701469	SCV001963749	benign	not specified		no assertion criteria provided	clinical testing