ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.1351C>T (p.Arg451Trp)

gnomAD frequency: 0.00247  dbSNP: rs138205062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963720 SCV001110891 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000963720 SCV001886239 benign not provided 2018-11-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135386, 24503134)
Ambry Genetics RCV002382188 SCV002690051 benign Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV000963720 SCV004133605 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing LMF1: BP4, BS2

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