ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.700-5C>T

gnomAD frequency: 0.00001  dbSNP: rs745442558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840213 SCV000982135 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001395985 SCV001597705 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892764 SCV004712977 likely benign FLNC-related disorder 2022-04-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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