ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)

gnomAD frequency: 0.00001  dbSNP: rs1362619480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369356 SCV001565792 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145636 SCV003833140 uncertain significance not provided 2021-06-04 criteria provided, single submitter clinical testing

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