ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771953 SCV000904907 likely benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
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.

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