ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) (rs398123618)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000680538 SCV000807948 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079696 SCV000111579 uncertain significance not provided 2012-09-07 criteria provided, single submitter clinical testing
Invitae RCV000543977 SCV000639790 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-06-11 criteria provided, single submitter clinical testing

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