ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)

gnomAD frequency: 0.00023  dbSNP: rs200787122
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000444097 SCV000151177 likely benign not specified 2016-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249921 SCV000319778 likely benign Cardiovascular phenotype 2015-06-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000444097 SCV000513060 benign not specified 2015-08-31 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.
Athena Diagnostics Inc RCV000444097 SCV000613328 benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000444097 SCV000708384 benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680535 SCV000807944 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000861237 SCV001001494 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001705831 SCV001470800 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705831 SCV001926801 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705831 SCV001966758 likely benign not provided no assertion criteria provided clinical testing

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