ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.598-9C>T

gnomAD frequency: 0.00031  dbSNP: rs200463656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274877 SCV000337070 uncertain significance not provided 2015-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000274877 SCV001027379 likely benign not provided 2024-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272314 SCV001454189 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-06-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003930098 SCV004738558 likely benign MLC1-related disorder 2020-02-27 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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