ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr)

gnomAD frequency: 0.02791  dbSNP: rs58694313
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420584 SCV000515882 benign not specified 2015-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000962389 SCV001109467 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253411 SCV002524283 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499072 SCV002524294 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253410 SCV002524305 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000962389 SCV005290264 benign not provided criteria provided, single submitter not provided
PXE International RCV000499072 SCV000589081 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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