ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=)

gnomAD frequency: 0.00006  dbSNP: rs183948518
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199346 SCV000250343 benign not specified 2014-08-12 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.
Invitae RCV001085562 SCV000639795 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619853 SCV000739045 benign Cardiovascular phenotype 2017-11-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711671 SCV000842058 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720955 SCV000851839 benign History of neurodevelopmental disorder 2017-11-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000199346 SCV004122599 benign not specified 2023-10-09 criteria provided, single submitter clinical testing

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