ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) (rs782253233)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507395 SCV000603734 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620473 SCV000739060 likely benign Cardiovascular phenotype 2014-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718318 SCV000849180 likely benign History of neurodevelopmental disorder 2014-09-18 criteria provided, single submitter clinical testing
Invitae RCV000864833 SCV001005696 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

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