ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)

gnomAD frequency: 0.00041  dbSNP: rs180834558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514907 SCV000610859 likely benign not provided 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV001082529 SCV000651172 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000514907 SCV000725715 benign not provided 2019-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395233 SCV002671854 benign Cardiovascular phenotype 2020-01-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002490874 SCV002803691 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-11 criteria provided, single submitter clinical testing

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