ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1095C>T (p.Ile365=)

dbSNP: rs373366243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519718 SCV001728638 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-09-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000940920 SCV002049816 benign not provided 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454159 SCV002737759 benign Familial thoracic aortic aneurysm and aortic dissection 2021-10-29 criteria provided, single submitter clinical testing This alteration is classified as 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.

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