ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr)

dbSNP: rs72653775
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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 RCV002481594 SCV002786644 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-02-28 criteria provided, single submitter clinical testing
PXE International RCV000499317 SCV000588971 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 no assertion criteria provided research

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