ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1431+73C>G

gnomAD frequency: 0.71456  dbSNP: rs6498618
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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 RCV001548799 SCV001768763 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548800 SCV001768764 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548801 SCV001768765 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715505 SCV005290307 benign not provided criteria provided, single submitter not provided

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