ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-13_737-9del

dbSNP: rs374867802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200791 SCV002481058 likely benign X-linked myopathy with postural muscle atrophy 2022-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438979 SCV004165700 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FHL1: BS2
PreventionGenetics, part of Exact Sciences RCV003971152 SCV004794248 likely benign FHL1-related disorder 2023-06-30 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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