ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser)

gnomAD frequency: 0.00008  dbSNP: rs527248119
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559622 SCV000651145 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 RCV001700216 SCV001947355 benign not provided 2021-01-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28356264)
Ambry Genetics RCV002367926 SCV002665328 likely benign Cardiovascular phenotype 2019-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV001700216 SCV004161049 benign not provided 2022-04-01 criteria provided, single submitter clinical testing FLNC: BS1, BS2
Clinical Genetics, Academic Medical Center RCV001701077 SCV001923210 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700216 SCV001927061 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700216 SCV001964813 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001700216 SCV002036161 likely benign not provided no assertion criteria provided clinical testing

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