ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1071C>T (p.Asp357=) (rs376875762)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470296 SCV000559830 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517349 SCV000614023 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000517349 SCV000718339 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV001180576 SCV001345535 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing

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