ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.689-10C>G

gnomAD frequency: 0.00456  dbSNP: rs115841332
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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 RCV000041649 SCV000065345 benign not specified 2012-03-16 criteria provided, single submitter clinical testing 689-10C>G in intron 5 of FHL2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence and has been identified in 1.3% (52/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS; dbSNP rs115841332).
Labcorp Genetics (formerly Invitae), Labcorp RCV000458869 SCV000561341 benign Primary dilated cardiomyopathy 2025-02-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768813 SCV000900186 benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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