ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6770-8T>C

gnomAD frequency: 0.00001  dbSNP: rs1307963198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001404336 SCV001606234 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001762672 SCV001989377 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016)

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