ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.689G>A (p.Arg230Gln)

gnomAD frequency: 0.00395  dbSNP: rs192224688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887028 SCV001030565 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000887028 SCV002576076 likely benign not provided 2019-11-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002363329 SCV002661426 benign Cardiovascular phenotype 2019-07-16 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.
PreventionGenetics, part of Exact Sciences RCV003930686 SCV004746396 likely benign LMF1-related disorder 2020-01-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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