ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) (rs371707134)

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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 RCV000719378 SCV000850244 uncertain significance History of neurodevelopmental disorder 2016-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000198151 SCV000250374 likely benign not specified 2018-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GenomeConnect, ClinGen RCV000844958 SCV000986783 not provided Periventricular nodular heterotopia 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/09/2015 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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