ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1056G>A (p.Ala352=)

gnomAD frequency: 0.00006  dbSNP: rs774824768
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 RCV001444584 SCV001647593 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504729 SCV002802568 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-04-08 criteria provided, single submitter clinical testing

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