ClinVar Miner

Submissions for variant NM_001631.5(ALPI):c.274C>T (p.Arg92Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004790648 SCV005409082 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003964173 SCV004784034 benign ALPI-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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