ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)

gnomAD frequency: 0.00004  dbSNP: rs766287809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003495204 SCV001064666 likely benign Methylmalonic aciduria and homocystinuria type cblF 2024-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902986 SCV004719573 likely benign LMBRD1-related disorder 2019-08-12 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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