ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=)

dbSNP: rs782667495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153251 SCV000202726 uncertain significance not provided 2014-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764939 SCV004569690 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-09-19 criteria provided, single submitter clinical testing

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