ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2788-127A>G

gnomAD frequency: 0.97599  dbSNP: rs7201980
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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 RCV001549163 SCV001769265 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549164 SCV001769266 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549181 SCV001769283 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647422 SCV001861132 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647422 SCV005290276 benign not provided criteria provided, single submitter not provided

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