ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) (rs201488545)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757307 SCV000885475 benign not provided 2017-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249078 SCV000320104 likely benign Cardiovascular phenotype 2015-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718516 SCV000849380 likely benign History of neurodevelopmental disorder 2015-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000194834 SCV000168572 benign not specified 2014-06-09 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.
Genetic Services Laboratory, University of Chicago RCV000194834 SCV000247394 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing
Invitae RCV000233113 SCV000287147 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-08-24 criteria provided, single submitter clinical testing

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