ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)

gnomAD frequency: 0.00002  dbSNP: rs1031265089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315777 SCV001506369 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499610 SCV002777451 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145558 SCV003833170 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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