ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1419C>T (p.Gly473=)

dbSNP: rs373417343
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944395 SCV001090365 likely benign not provided 2024-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489275 SCV002802489 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277098 SCV001463902 uncertain significance Hypophosphatasia 2020-01-17 no assertion criteria provided clinical testing

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