ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His)

gnomAD frequency: 0.00005  dbSNP: rs782341270
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002232796 SCV000762339 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-10-03 criteria provided, single submitter clinical testing

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