ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.138C>T (p.Ile46=)

dbSNP: rs1553261914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653981 SCV000775871 likely benign Charcot-Marie-Tooth disease type 2 2017-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994131 SCV001147456 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388147 SCV002695973 likely benign Cardiovascular phenotype 2019-07-11 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.

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