ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.623-7G>A

gnomAD frequency: 0.00002  dbSNP: rs782670288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724477 SCV000230172 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000178164 SCV000526476 likely benign not specified 2016-03-30 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 RCV001481245 SCV001685584 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-25 criteria provided, single submitter clinical testing

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