ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)

gnomAD frequency: 0.00023  dbSNP: rs200524526
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724209 SCV000229943 uncertain significance not provided 2016-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000724209 SCV000250428 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314640 SCV000739104 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-16 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 RCV001087795 SCV001002480 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724209 SCV001248060 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724209 SCV001740809 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724209 SCV001797806 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000724209 SCV001808873 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724209 SCV001929446 likely benign not provided no assertion criteria provided clinical testing

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