ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3883-5G>A

dbSNP: rs72664213
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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 RCV000499308 SCV000589157 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002506214 SCV002814530 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-25 criteria provided, single submitter clinical testing

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