ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2023-6C>T

gnomAD frequency: 0.00004  dbSNP: rs372021340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170406 SCV000222831 uncertain significance Heterotopia, periventricular, X-linked dominant 2013-05-20 criteria provided, single submitter clinical testing
Invitae RCV000553609 SCV000639768 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001704233 SCV000728443 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing

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