ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.84C>T (p.Cys28=)

gnomAD frequency: 0.00004  dbSNP: rs375234968
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Total submissions: 3
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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 RCV000600642 SCV000711384 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing p.Cys28Cys in exon 2 of FHL2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 11/30782 South Asian chromosomes and 10/34414 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs375234968)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171213 SCV001333915 benign Cardiomyopathy 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402740 SCV001604592 likely benign Primary dilated cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing

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