ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met)

gnomAD frequency: 0.00001  dbSNP: rs781842942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840194 SCV000982114 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536119 SCV003495270 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-04-06 criteria provided, single submitter clinical testing

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