ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.693G>A (p.Thr231=)

gnomAD frequency: 0.00001  dbSNP: rs756589485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982945 SCV001130964 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272311 SCV001454186 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003897994 SCV004711587 likely benign MLC1-related disorder 2021-04-16 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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