ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1890C>G (p.Thr630=)

gnomAD frequency: 0.42733  dbSNP: rs8058696
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520635 SCV001729788 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520635 SCV001896559 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253467 SCV002524883 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499325 SCV002524894 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253466 SCV002524905 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520635 SCV005290296 benign not provided criteria provided, single submitter not provided
PXE International RCV000499325 SCV000588977 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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