ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1482C>T (p.Leu494=)

gnomAD frequency: 0.00102  dbSNP: rs142545037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923758 SCV001069247 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000923758 SCV001771096 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495546 SCV002799101 benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832084 SCV002094093 likely benign Hypophosphatasia 2019-10-24 no assertion criteria provided clinical testing

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