ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6380-17G>A

gnomAD frequency: 0.00003  dbSNP: rs200764111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659673 SCV000781516 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002066962 SCV002410529 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-06-23 criteria provided, single submitter clinical testing

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