ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp)

gnomAD frequency: 0.00001  dbSNP: rs199645691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172098 SCV001335045 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505751 SCV002816467 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-13 criteria provided, single submitter clinical testing

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