ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.-176C>T

gnomAD frequency: 0.00007  dbSNP: rs990367929
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002507454 SCV002816599 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-05-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850289 SCV000992464 uncertain significance Low alkaline phosphatase no assertion criteria provided clinical testing

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