ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.462T>C (p.Tyr154=)

gnomAD frequency: 0.00003  dbSNP: rs397517960
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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 RCV000041645 SCV000065341 likely benign not specified 2011-12-27 criteria provided, single submitter clinical testing Tyr154Tyr in exon 4 of FHL2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Tyr154Tyr in exon 4 of FHL2 (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000557508 SCV000623508 likely benign Primary dilated cardiomyopathy 2022-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974926 SCV004797810 likely benign FHL2-related disorder 2019-04-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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