Submissions for variant NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)

gnomAD frequency: 0.06836  dbSNP: rs72657698

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000191056	SCV000245445	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum	2015-06-29	criteria provided, single submitter	clinical testing	This variant was found once in our laboratory in trans with a pathogenic variant [R518X] in a 39-year-old male with hereditary anemia, angioid streaks on retina, possible pseudoxanthoma elasticum, fatigue, chronic joint pain. However, variant is common, and we have identified homozygotes who do not have features of PXE.
PXE International	RCV000191056	SCV000588935	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	criteria provided, single submitter	research
GeneDx	RCV000132642	SCV001937019	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19726431, 27884173, 11536079, 16086317, 19339160, 33144682)
Genome-Nilou Lab	RCV002253238	SCV002524241	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000191056	SCV002524242	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253237	SCV002524243	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492516	SCV002796738	benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2021-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019749	SCV004910917	benign	Inborn genetic diseases	2022-03-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000132642	SCV005213414	likely benign	not provided		criteria provided, single submitter	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132642	SCV000172593	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	RCV001528636	SCV001740690	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001528636	SCV001920712	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000132642	SCV001931956	likely benign	not provided		no assertion criteria provided	clinical testing