ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1605C>A (p.Thr535=)

dbSNP: rs727505207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001399437 SCV001601227 likely benign Myofibrillar myopathy 4 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382572 SCV004098341 likely benign Cardiovascular phenotype 2023-07-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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