ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) (rs782437864)

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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 RCV000618304 SCV000739107 likely benign Cardiovascular phenotype 2017-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000718940 SCV000849804 likely benign History of neurodevelopmental disorder 2017-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000471054 SCV000556060 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2016-11-26 criteria provided, single submitter clinical testing

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