Submissions for variant NM_006208.3(ENPP1):c.2101-11del

dbSNP: rs397832689

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000386044	SCV000460171	benign	Arterial calcification, generalized, of infancy, 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296282	SCV000460172	benign	Hypophosphatemic Rickets, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000611151	SCV000711854	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	c.2101-11delT in intron 20 of ENPP1: This variant is not expected to have clinic al significance because it has been identified in 85.70% (1133/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs1799774).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510114	SCV001717056	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001510114	SCV001753709	benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000386044	SCV001876031	benign	Arterial calcification, generalized, of infancy, 1	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662331	SCV001876032	benign	Hypopigmentation-punctate palmoplantar keratoderma syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662330	SCV001876034	benign	Hypophosphatemic rickets, autosomal recessive, 2	2021-07-30	criteria provided, single submitter	clinical testing
OMIM	RCV000014552	SCV000034803	risk factor	Diabetes mellitus type 2, susceptibility to	2006-07-01	no assertion criteria provided	literature only
OMIM	RCV000033196	SCV000057041	risk factor	Obesity	2006-07-01	no assertion criteria provided	literature only