ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.-104-5T>C

gnomAD frequency: 0.00097  dbSNP: rs184586988
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565319 SCV001788645 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476866 SCV002794655 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-09-28 criteria provided, single submitter clinical testing

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