ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1455G>A (p.Ala485=)

gnomAD frequency: 0.00009  dbSNP: rs188443578
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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 RCV001483968 SCV001688375 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495721 SCV002799124 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-09-03 criteria provided, single submitter clinical testing

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