ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.261T>C (p.Asp87=)

dbSNP: rs397517900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041341 SCV000065034 likely benign not specified 2012-02-07 criteria provided, single submitter clinical testing Asp87Asp in exon 1 of LMNA: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Asp87Asp in exon 1 of LMNA (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054810 SCV002360109 likely benign Charcot-Marie-Tooth disease type 2 2023-07-14 criteria provided, single submitter clinical testing

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