ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2490C>T (p.Ala830=)

gnomAD frequency: 0.17690  dbSNP: rs9924755
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499066 SCV000589015 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001517253 SCV001725725 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517253 SCV001834938 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253475 SCV002524749 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499066 SCV002524760 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253474 SCV002524772 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496921 SCV002810645 benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517253 SCV005290286 benign not provided criteria provided, single submitter not provided

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