ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) (rs200198847)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424564 SCV000250402 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424564 SCV000511214 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083295 SCV000556035 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617315 SCV000739098 benign Cardiovascular phenotype 2018-04-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659676 SCV000781519 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000197144 SCV000856324 likely benign not specified 2017-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283464 SCV000883906 likely benign none provided 2020-02-22 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000424564 SCV001469049 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000424564 SCV001932402 likely benign not provided no assertion criteria provided clinical testing

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