ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2787+62T>C

gnomAD frequency: 0.97736  dbSNP: rs11866320
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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 RCV001549185 SCV001769287 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549186 SCV001769288 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549187 SCV001769289 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713033 SCV001945068 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713033 SCV005290279 benign not provided criteria provided, single submitter not provided

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