ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.480C>A (p.Gly160=)

gnomAD frequency: 0.00001  dbSNP: rs758848135
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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 RCV001189286 SCV001356546 likely benign Cardiomyopathy 2019-06-22 criteria provided, single submitter clinical testing
Invitae RCV003117829 SCV003784483 likely benign Charcot-Marie-Tooth disease type 2 2023-11-17 criteria provided, single submitter clinical testing

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