ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) (rs76337075)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178598 SCV000230713 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000178598 SCV000250359 benign not specified 2014-10-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000251978 SCV000320534 benign Cardiovascular phenotype 2015-12-02 criteria provided, single submitter clinical testing
Invitae RCV000469779 SCV000556063 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
Ambry Genetics RCV000715630 SCV000846460 benign History of neurodevelopmental disorder 2015-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000178598 SCV001158890 benign not specified 2018-08-31 criteria provided, single submitter clinical testing

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