ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1746C>T (p.Arg582=)

gnomAD frequency: 0.00003  dbSNP: rs764561834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186008 SCV001352336 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV001455621 SCV001659385 likely benign Charcot-Marie-Tooth disease type 2 2024-01-08 criteria provided, single submitter clinical testing

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