ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1432-41A>G

gnomAD frequency: 0.23891  dbSNP: rs2239322
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666495 SCV001884736 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253940 SCV002525182 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253938 SCV002525193 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253939 SCV002525204 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666495 SCV005290305 benign not provided criteria provided, single submitter not provided

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