ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3876C>T (p.His1292=) (rs199917719)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176381 SCV000228029 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000176381 SCV000250339 benign not specified 2014-07-10 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 RCV001080814 SCV000556064 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176381 SCV000594800 likely benign not specified 2015-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617532 SCV000738382 likely benign Cardiovascular phenotype 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting benign classification
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680540 SCV000807950 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718830 SCV000849694 likely benign History of neurodevelopmental disorder 2019-09-09 criteria provided, single submitter clinical testing Other strong data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757311 SCV000885481 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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