ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) (rs782563345)

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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 RCV000720623 SCV000851502 likely benign History of neurodevelopmental disorder 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Other strong data
Center for Human Genetics, Inc RCV000659668 SCV000781511 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000640797 SCV000762396 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-09-06 criteria provided, single submitter clinical testing

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