ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.174C>T (p.Asp58=)

gnomAD frequency: 0.00018  dbSNP: rs141208906
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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 RCV000150708 SCV000198120 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp58Asp in exon 3 of FHL2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence. It has been identified in 3/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs141208906). Asp58Asp in exon 3 of FHL2 (rs 141208906; allele frequency = 3/7020) **
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768818 SCV000900191 likely benign Cardiomyopathy 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862093 SCV001002538 likely benign Primary dilated cardiomyopathy 2023-12-31 criteria provided, single submitter clinical testing

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