ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)

gnomAD frequency: 0.00010  dbSNP: rs370277156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504288 SCV000594814 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV002230985 SCV000828970 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-09-30 criteria provided, single submitter clinical testing
GeneDx RCV001692150 SCV001910192 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing

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