ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1429+8C>T (rs202181557)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079687 SCV000111570 benign not specified 2013-04-09 criteria provided, single submitter clinical testing
Claritas Genomics RCV000170402 SCV000222827 uncertain significance Periventricular nodular heterotopia 1 2014-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000079687 SCV000250370 benign not specified 2014-06-17 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.
Invitae RCV000231754 SCV000287138 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281858 SCV000603737 benign none provided 2020-02-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079687 SCV000151181 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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