ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.1108A>G (p.Asn370Asp) (rs72653760)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198805 SCV001369800 uncertain significance Pes planus; Abnormality of the sternum; Bruising susceptibility; Hyperextensibility of the finger joints; Joint dislocation; Joint laxity 2018-10-22 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP1,BP4,BP6. This variant was detected in heterozygous state.
PXE International RCV000499173 SCV000588947 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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