Submissions for variant NM_001171.6(ABCC6):c.2175A>T (p.Val725=)

gnomAD frequency: 0.02503  dbSNP: rs59757815

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514862	SCV001722815	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001514862	SCV001942668	benign	not provided	2019-02-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16127278, 16086317, 15723264, 19339160)
Genome-Nilou Lab	RCV002253471	SCV002524816	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499305	SCV002524827	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253470	SCV002524838	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514862	SCV005290291	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499305	SCV000588994	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001701023	SCV001921436	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701023	SCV001953762	benign	not specified		no assertion criteria provided	clinical testing