ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)

gnomAD frequency: 0.00238  dbSNP: rs201174259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180230 SCV000232627 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000180230 SCV000516174 benign not specified 2015-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000558511 SCV000652723 benign Marshall-Smith syndrome; Malan overgrowth syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002054145 SCV002498426 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NFIX: BP4, BP7

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