ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro)

gnomAD frequency: 0.00001  dbSNP: rs1555509499
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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 RCV000499355 SCV000589186 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-02 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005018847 SCV005638863 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-09 criteria provided, single submitter clinical testing

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