ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.918C>T (p.Asp306=)

gnomAD frequency: 0.00005  dbSNP: rs373257447
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001483471 SCV001687863 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506557 SCV002813065 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-03-09 criteria provided, single submitter clinical testing

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