ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.411G>A (p.Ser137=)

gnomAD frequency: 0.01247  dbSNP: rs117150036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564439 SCV001787607 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001564439 SCV002331855 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324140 SCV002628448 benign Cardiovascular phenotype 2019-02-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV001564439 SCV005216833 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003966199 SCV004787317 benign LMF1-related disorder 2019-06-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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