ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)

dbSNP: rs782721874
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573777 SCV000250362 benign not provided 2020-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29334594)
Labcorp Genetics (formerly Invitae), Labcorp RCV000464227 SCV000556031 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315597 SCV000739052 benign Familial thoracic aortic aneurysm and aortic dissection 2017-03-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680546 SCV000807957 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573777 SCV004165135 benign not provided 2024-07-01 criteria provided, single submitter clinical testing FLNA: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000197428 SCV005040624 likely benign not specified 2024-03-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573777 SCV001800128 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573777 SCV001808815 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000197428 SCV001931086 benign not specified no assertion criteria provided clinical testing

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