ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2097G>T (p.Glu699Asp) (rs72653784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499298 SCV000588991 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197941 SCV001368726 likely pathogenic Hemiparesis; Migraine with aura 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP4,PP5. This variant was detected in heterozygous state.

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