ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) (rs782721874)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573777 SCV000250362 benign not provided 2020-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29334594)
Invitae RCV000464227 SCV000556031 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000197428 SCV000603732 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621701 SCV000739052 benign Cardiovascular phenotype 2017-03-16 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 RCV000680546 SCV000807957 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573777 SCV001800128 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573777 SCV001808815 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000197428 SCV001931086 benign not specified no assertion criteria provided clinical testing

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