Submissions for variant NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)

gnomAD frequency: 0.00247  dbSNP: rs143487365

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000957420	SCV000515884	likely benign	not provided	2019-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957420	SCV001104222	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957420	SCV001245831	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ABCC6: BP4, BP7, BS2
Genome-Nilou Lab	RCV002253414	SCV002524224	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253412	SCV002524225	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253413	SCV002524226	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502492	SCV002813173	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2021-08-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000441075	SCV001922583	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000957420	SCV001972431	likely benign	not provided		no assertion criteria provided	clinical testing