ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3507-16T>C

gnomAD frequency: 0.04995  dbSNP: rs3213471
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499161 SCV000589153 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001516254 SCV001724514 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001516254 SCV001851108 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253487 SCV002524450 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499161 SCV002524461 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253486 SCV002524472 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516254 SCV005290271 benign not provided criteria provided, single submitter not provided

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