ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.95C>T (p.Ala32Val)

gnomAD frequency: 0.00194  dbSNP: rs199831082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000972900 SCV001120630 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382194 SCV002695687 likely benign Cardiovascular phenotype 2019-10-07 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 RCV002479136 SCV002803593 likely benign Lipase deficiency, combined 2021-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972900 SCV004184494 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing LMF1: BP4

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