ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.130C>G (p.Leu44Val)

gnomAD frequency: 0.00001  dbSNP: rs940803158
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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 RCV002475997 SCV002788691 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-04-12 criteria provided, single submitter clinical testing
PXE International RCV000499271 SCV000589214 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 no assertion criteria provided research

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