ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.534C>T (p.Cys178=)

gnomAD frequency: 0.00002  dbSNP: rs377693754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228144 SCV000287131 likely benign X-linked myopathy with postural muscle atrophy 2024-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755818 SCV005348348 likely benign FHL1-related disorder 2020-08-13 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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