ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.393C>T (p.Ala131=)

gnomAD frequency: 0.00013  dbSNP: rs368832031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437117 SCV001639964 likely benign Myofibrillar myopathy 4 2023-06-09 criteria provided, single submitter clinical testing
GeneDx RCV001779218 SCV002015385 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920940 SCV004730629 likely benign LDB3-related disorder 2019-05-07 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).

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