ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)

gnomAD frequency: 0.00001  dbSNP: rs1557178198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372973 SCV001569669 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493899 SCV002793471 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 2021-10-18 criteria provided, single submitter clinical testing

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