ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.282C>T (p.Phe94=)

gnomAD frequency: 0.00001  dbSNP: rs746608270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494086 SCV001698735 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501693 SCV002812928 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-12-20 criteria provided, single submitter clinical testing

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