ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1489-9C>T

gnomAD frequency: 0.00003  dbSNP: rs374324602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001453406 SCV001657099 likely benign Charcot-Marie-Tooth disease type 2 2022-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000938223 SCV002504364 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Color Diagnostics, LLC DBA Color Health RCV003532329 SCV004359119 likely benign Cardiomyopathy 2022-07-25 criteria provided, single submitter clinical testing

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