ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.1608G>T (p.Val536=)

gnomAD frequency: 0.00148  dbSNP: rs201012186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908727 SCV001053505 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390895 SCV002703915 likely benign Cardiovascular phenotype 2019-03-21 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.
Fulgent Genetics, Fulgent Genetics RCV002502716 SCV002795100 likely benign Lipase deficiency, combined 2021-09-27 criteria provided, single submitter clinical testing

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