ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.383C>T (p.Ala128Val)

gnomAD frequency: 0.00023  dbSNP: rs145466901
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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 RCV001439457 SCV001642343 likely benign Leber congenital amaurosis 4 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000983869 SCV001922661 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000983869 SCV001973006 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004536006 SCV004742961 likely benign AIPL1-related disorder 2023-02-06 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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