ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2982A>G (p.Lys994=)

gnomAD frequency: 0.00002  dbSNP: rs782056982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002529991 SCV000762364 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-27 criteria provided, single submitter clinical testing

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