ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-3del (rs368428875)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179823 SCV000232137 likely benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Invitae RCV000230834 SCV000287132 benign Myopathy with postural muscle atrophy, X-linked 2020-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179823 SCV000306903 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000179823 SCV001475112 benign not specified 2020-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001651048 SCV001866657 benign not provided 2016-10-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001651048 SCV001927571 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000179823 SCV001955276 benign not specified no assertion criteria provided clinical testing

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