ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)

gnomAD frequency: 0.00015  dbSNP: rs370735674
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724189 SCV000225578 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000225700 SCV000250324 benign not specified 2014-10-21 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 RCV004020066 SCV000320248 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510326 SCV001717336 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724189 SCV003800253 likely benign not provided 2022-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724189 SCV004698760 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225700 SCV005077331 benign not specified 2024-04-08 criteria provided, single submitter clinical testing

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