ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln)

gnomAD frequency: 0.00006  dbSNP: rs777566074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496931 SCV002789507 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-02-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884569 SCV004701883 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing ABCC6: PM2, PP2, BP4
PXE International RCV000499118 SCV000589273 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 no assertion criteria provided research

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