ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.863-15T>C

gnomAD frequency: 0.00003  dbSNP: rs373980626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810796 SCV002048374 likely benign not provided 2021-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489850 SCV002798681 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810796 SCV003033901 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing

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