ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2390-12G>A

gnomAD frequency: 0.00024  dbSNP: rs374233889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592329 SCV001823883 likely benign not provided 2018-10-17 criteria provided, single submitter clinical testing
Invitae RCV002072347 SCV002366781 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-20 criteria provided, single submitter clinical testing

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