ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=) (rs375163471)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719794 SCV000850664 likely benign History of neurodevelopmental disorder 2017-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000226959 SCV000287148 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2016-02-02 criteria provided, single submitter clinical testing

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