ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) (rs200195310)

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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 RCV000178571 SCV000230680 benign not specified 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV001704852 SCV000522967 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617434 SCV000738441 likely benign Cardiovascular phenotype 2016-01-28 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.
Invitae RCV000640806 SCV000762405 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718944 SCV000849808 likely benign History of neurodevelopmental disorder 2016-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287002 SCV001473640 benign none provided 2019-11-04 criteria provided, single submitter clinical testing

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