ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.393C>T (p.Ser131=)

dbSNP: rs2148158625
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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 RCV001440662 SCV001643573 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501549 SCV002805409 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-07-03 criteria provided, single submitter clinical testing

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