ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)

dbSNP: rs201904661
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000176854 SCV000228610 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV001704262 SCV000513058 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000176854 SCV000594799 likely benign not specified 2015-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620691 SCV000739057 likely benign Cardiovascular phenotype 2016-04-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000640781 SCV000762380 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-10-21 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680537 SCV000807946 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000176854 SCV001157354 likely benign not specified 2018-09-03 criteria provided, single submitter clinical testing

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