ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg)

gnomAD frequency: 0.00001  dbSNP: rs749989499
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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 RCV002487628 SCV002780703 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-04-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510977 SCV002821010 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing ALPL: PM1, PM2
Institute of Human Genetics, University of Wuerzburg RCV000789000 SCV000928309 uncertain significance Low alkaline phosphatase no assertion criteria provided clinical testing

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