ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1071G>A (p.Arg357=)

dbSNP: rs2148189762
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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 RCV001441137 SCV001644056 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728725 SCV005339946 likely benign ALPL-related disorder 2024-07-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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