ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7756+8A>G (rs201663443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153247 SCV000202721 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing
Invitae RCV000234543 SCV000287156 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659677 SCV000781520 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing

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