ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1077A>G (p.Ser359=)

gnomAD frequency: 0.01355  dbSNP: rs72664283
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428599 SCV000515926 benign not specified 2016-05-19 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 RCV000974027 SCV001121831 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253418 SCV002524234 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499254 SCV002524235 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253417 SCV002524236 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974027 SCV005290315 benign not provided criteria provided, single submitter not provided
PXE International RCV000499254 SCV000589134 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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