Submissions for variant NM_001171.6(ABCC6):c.*38G>A

gnomAD frequency: 0.00206  dbSNP: rs59461468

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002475994	SCV002794761	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2022-01-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715238	SCV005290253	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499362	SCV000589129	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Reproductive Health Research and Development, BGI Genomics	RCV000499362	SCV001142456	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2020-01-06	no assertion criteria provided	curation	NM_001171.5:c.*38G>A in the ABCC6 gene has an allele frequency of 0.056 in Latino subpopulation in the gnomAD database. 66 homozygous occurrences are observed in the gnomAD database.This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.
PreventionGenetics, part of Exact Sciences	RCV004535571	SCV004734282	likely benign	ABCC6-related disorder	2019-07-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).