ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.810+13G>A

dbSNP: rs11264444
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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 RCV000041370 SCV000065063 likely benign not specified 2012-04-05 criteria provided, single submitter clinical testing 810+13G>A in intron 4 of LMNA: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 810+ 13G>A in intron 4 of LMNA (allele frequency = n/a)
Invitae RCV002054811 SCV002338024 likely benign Charcot-Marie-Tooth disease type 2 2024-01-19 criteria provided, single submitter clinical testing

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