ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.396A>G (p.Ser132=)

gnomAD frequency: 0.00025  dbSNP: rs913912489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420678 SCV000518361 likely benign not specified 2016-05-02 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.
CeGaT Center for Human Genetics Tuebingen RCV000585316 SCV000692844 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ABCC6: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002488904 SCV002800979 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-11-18 criteria provided, single submitter clinical testing

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