ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr)

dbSNP: rs781993962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230673 SCV000556038 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV001707699 SCV001936050 benign not provided 2020-03-24 criteria provided, single submitter clinical testing Reported in an individual with single suture craniosynostosis (Clarke et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29168297)

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