ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.346C>T (p.Leu116=) (rs876657491)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213438 SCV000270363 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Leu116Leu in exon 1 of LMNA: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Color RCV000771953 SCV000904907 likely benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
Invitae RCV000904865 SCV001049415 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing

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