ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3633+100A>C

gnomAD frequency: 0.97755  dbSNP: rs3851721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549157 SCV001769259 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549158 SCV001769260 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549159 SCV001769261 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655881 SCV001862772 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655881 SCV005290268 benign not provided criteria provided, single submitter not provided

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