ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1317C>T (p.Pro439=)

dbSNP: rs397517208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038721 SCV000062399 likely benign not specified 2013-01-23 criteria provided, single submitter clinical testing Pro439Pro in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Pro439Pro in exon 12 of LDB3 (allele frequenc y = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001469724 SCV001673810 likely benign Myofibrillar myopathy 4 2023-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003421953 SCV004127013 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LDB3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003924935 SCV004740421 likely benign LDB3-related disorder 2019-05-24 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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