ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro)

dbSNP: rs1555514895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002475999 SCV002775685 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-30 criteria provided, single submitter clinical testing
PXE International RCV000499221 SCV000589251 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 no assertion criteria provided research

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