ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)

dbSNP: rs72650698
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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 RCV000499276 SCV000588945 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2020-11-17 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002506210 SCV002810560 pathogenic 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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