ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)

gnomAD frequency: 0.00002  dbSNP: rs537457768
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919477 SCV001064823 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578761 SCV001806064 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960378 SCV004774729 likely benign MLC1-related disorder 2023-07-16 criteria provided, single submitter 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).
Natera, Inc. RCV001272315 SCV001454190 benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-04-28 no assertion criteria provided clinical testing

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