ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.348C>T (p.Ala116=)

gnomAD frequency: 0.00004  dbSNP: rs397516557
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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 RCV000036844 SCV000060499 likely benign not specified 2011-05-05 criteria provided, single submitter clinical testing Ala116Ala in exon 6 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 near a splice junction.
Invitae RCV001506171 SCV001711086 likely benign Myofibrillar myopathy 4 2023-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001636622 SCV001848100 likely benign not provided 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001636622 SCV003916615 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing LDB3: BP4, BP7

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