ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.663C>T (p.Pro221=) (rs2073470)

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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 RCV000117059 SCV000111591 benign not specified 2016-02-19 criteria provided, single submitter clinical testing
Claritas Genomics RCV000117059 SCV000222859 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000117059 SCV000250363 benign not specified 2014-08-08 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.
Ambry Genetics RCV000243473 SCV000319762 benign Cardiovascular phenotype 2015-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000474182 SCV000556072 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
Ambry Genetics RCV000716058 SCV000846891 benign History of neurodevelopmental disorder 2015-05-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000117059 SCV000883900 benign not specified 2018-07-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117059 SCV000151199 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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