ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.474+13G>A

gnomAD frequency: 0.01326  dbSNP: rs111339199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606810 SCV000714143 likely benign not specified 2017-09-13 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.
Fulgent Genetics, Fulgent Genetics RCV002491239 SCV002801138 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704104 SCV005213417 likely benign not provided criteria provided, single submitter not provided

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