ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.489C>T (p.Asp163=) (rs149670651)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234296 SCV000287130 benign Myopathy with postural muscle atrophy, X-linked 2020-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244038 SCV000306902 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244038 SCV000336616 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000244038 SCV000527964 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000244038 SCV001475111 benign not specified 2020-04-21 criteria provided, single submitter clinical testing

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