ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2130C>T (p.Tyr710=)

dbSNP: rs752415111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170186 SCV001332736 likely benign Cardiomyopathy 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001477210 SCV001681440 likely benign Myofibrillar myopathy 4 2024-09-23 criteria provided, single submitter clinical testing
GeneDx RCV001709707 SCV001936969 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418600 SCV002729109 likely benign Cardiovascular phenotype 2021-04-28 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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