Submissions for variant NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)

gnomAD frequency: 0.22903  dbSNP: rs2238472

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PXE International	RCV000006948	SCV000589079	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	criteria provided, single submitter	research
Mendelics	RCV000006948	SCV001139964	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000132640	SCV001729784	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000132640	SCV001916110	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10913334, 12928920, 21179111, 20981092, 20220177, 10811882, 27884173, 11536079, 23674961)
Genome-Nilou Lab	RCV002253195	SCV002524316	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000006948	SCV002524328	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253194	SCV002524339	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504758	SCV002808053	benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2021-12-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000132640	SCV005290267	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000006948	SCV000027144	pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	2000-05-23	no assertion criteria provided	literature only
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132640	SCV000172591	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529533	SCV001743130	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529533	SCV001920388	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529533	SCV001929704	benign	not specified		no assertion criteria provided	clinical testing