ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1236G>A (p.Ser412=)

gnomAD frequency: 0.00011  dbSNP: rs367955217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946246 SCV001092359 benign Marshall-Smith syndrome; Malan overgrowth syndrome 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942994 SCV004769219 benign NFIX-related disorder 2019-11-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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