ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) (rs201093148)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514558 SCV000250419 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing
Invitae RCV001080454 SCV000287139 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514558 SCV000609936 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000196132 SCV000709244 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000196132 SCV001157353 likely benign not specified 2018-08-12 criteria provided, single submitter clinical testing

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