ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.93C>T (p.Asp31=)

gnomAD frequency: 0.00009  dbSNP: rs199625892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318748 SCV000344416 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000318748 SCV001660336 likely benign not provided 2024-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949941 SCV004765628 likely benign MLC1-related disorder 2019-03-20 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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