ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1338+62C>G

gnomAD frequency: 0.23048  dbSNP: rs58394656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002254013 SCV002524174 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002254011 SCV002524185 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002254012 SCV002524196 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716900 SCV005290309 benign not provided criteria provided, single submitter not provided

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