ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7385-4A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380420 SCV002671171 uncertain significance Cardiovascular phenotype 2020-01-06 criteria provided, single submitter clinical testing The c.7385-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 45 in the FLNC gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003776379 SCV004571312 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-20 criteria provided, single submitter clinical testing

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