ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.882G>A (p.Pro294=)

gnomAD frequency: 0.00001  dbSNP: rs200163312
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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 RCV000975586 SCV001123472 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489431 SCV002801910 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-07-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272310 SCV001454185 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928602 SCV004741968 likely benign MLC1-related disorder 2019-05-13 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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