ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3506+83A>C

dbSNP: rs3213473
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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 RCV001549160 SCV001769262 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549161 SCV001769263 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549162 SCV001769264 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716772 SCV005290272 benign not provided criteria provided, single submitter not provided

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