ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.900C>A (p.Thr300=)

gnomAD frequency: 0.00003  dbSNP: rs760071118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001312158 SCV000520360 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622160 SCV000736988 likely benign Cardiovascular phenotype 2016-06-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428842 SCV001572488 benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491309 SCV001695895 likely benign Myofibrillar myopathy 4 2024-10-12 criteria provided, single submitter clinical testing

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