ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.174G>A (p.Leu58=)

dbSNP: rs757176737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665824 SCV000790003 likely benign Infantile hypophosphatasia 2017-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060814 SCV002351314 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing

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