ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=)

dbSNP: rs782231907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457764 SCV000556047 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001637035 SCV001851986 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323769 SCV002611006 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-01 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.

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