ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7136-6C>A

gnomAD frequency: 0.00015  dbSNP: rs368292177
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554541 SCV000651153 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001722506 SCV000728452 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476184 SCV002802036 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722506 SCV003917567 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FLNC: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001722506 SCV001978436 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001722506 SCV001980456 likely benign not provided no assertion criteria provided clinical testing

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