ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.246-4A>G

gnomAD frequency: 0.00001  dbSNP: rs370264195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499599 SCV001704363 likely benign Myofibrillar myopathy 4 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001558609 SCV001780597 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382614 SCV004098336 likely benign Cardiovascular phenotype 2023-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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