ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)

gnomAD frequency: 0.00036  dbSNP: rs140148322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154721 SCV000204401 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing p.Arg113Cys in exon 4 of FHL2: This variant is not expected to have clinical sig nificance because it has been identified in 0.07% (86/125956) of European chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs140148322). ACMG/AMP Criteria Applied: BS1; PP3.
Invitae RCV000546432 SCV000623504 likely benign Primary dilated cardiomyopathy 2023-12-09 criteria provided, single submitter clinical testing
Klaassen Lab, Charite University Medicine Berlin RCV000546432 SCV000995837 uncertain significance Primary dilated cardiomyopathy 2019-07-03 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171209 SCV001333911 likely benign Cardiomyopathy 2018-02-09 criteria provided, single submitter clinical testing

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