ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.237G>C (p.Ala79=)

gnomAD frequency: 0.00023  dbSNP: rs200626788
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079688 SCV000111571 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079688 SCV000151185 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000259078 SCV000613323 benign not specified 2019-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620917 SCV000739054 likely benign Cardiovascular phenotype 2017-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659650 SCV000781493 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720787 SCV000851669 likely benign History of neurodevelopmental disorder 2017-03-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001089423 SCV001003192 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000259078 SCV001157351 likely benign not specified 2018-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000079688 SCV001907168 benign not provided 2015-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079688 SCV001928238 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079688 SCV001970174 likely benign not provided no assertion criteria provided clinical testing

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