ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) (rs369179210)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618214 SCV000739110 likely benign Cardiovascular phenotype 2017-06-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000316860 SCV000340254 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing
Invitae RCV000640787 SCV000762386 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-08-16 criteria provided, single submitter clinical testing

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