ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.339C>T (p.Thr113=)

gnomAD frequency: 0.00003  dbSNP: rs377453516
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001479903 SCV001684209 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495714 SCV002794789 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-02-13 criteria provided, single submitter clinical testing

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