ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1245G>A (p.Val415=)

gnomAD frequency: 0.30255  dbSNP: rs9940825
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520637 SCV001729790 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520637 SCV001834175 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253463 SCV002524227 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499334 SCV002524229 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253462 SCV002524230 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496918 SCV002810199 benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520637 SCV005290313 benign not provided criteria provided, single submitter not provided
PXE International RCV000499334 SCV000588957 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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