ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.378G>A (p.Ala126=)

gnomAD frequency: 0.00003  dbSNP: rs149872184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617604 SCV000736476 likely benign Cardiovascular phenotype 2017-12-12 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.
Invitae RCV001518395 SCV001727073 benign Myofibrillar myopathy 4 2021-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000558934 SCV001793502 likely benign not provided 2021-07-29 criteria provided, single submitter clinical testing

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