ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1432-48G>A

gnomAD frequency: 0.95000  dbSNP: rs7193932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001528005 SCV001739162 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548796 SCV001768760 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548797 SCV001768761 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548798 SCV001768762 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528005 SCV005290306 benign not provided criteria provided, single submitter not provided

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