ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1867+92G>A

gnomAD frequency: 0.44653  dbSNP: rs7192265
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001654967 SCV001869416 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253935 SCV002524982 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253933 SCV002524994 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253934 SCV002525005 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001654967 SCV005290298 benign not provided criteria provided, single submitter not provided

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