ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4842G>T

dbSNP: rs113445294
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Total submissions: 2
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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 RCV000036843 SCV000060498 likely benign not specified 2013-01-23 criteria provided, single submitter clinical testing 345-15G>T in intron 5 of LDB3: This variant is not expected to have clinical sig nificance because it is not predicted to impact splicing and another variant at this position (345-15G>A) is common in the general population. 345-15G>T in int ron 5 of LDB3 (allele frequency = n/a)
Invitae RCV003611494 SCV004511197 likely benign Myofibrillar myopathy 4 2023-03-24 criteria provided, single submitter clinical testing

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