ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7756+11=

dbSNP: rs7063300
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079713 SCV000111596 benign not specified 2015-05-20 criteria provided, single submitter clinical testing
Claritas Genomics RCV000079713 SCV000222862 benign not specified 2012-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079713 SCV000306628 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055130 SCV002351033 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713200 SCV005275081 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079713 SCV001743913 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000079713 SCV001809583 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079713 SCV001965555 benign not specified no assertion criteria provided clinical testing

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