ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.400G>T (p.Val134Leu)

dbSNP: rs929589127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003225437 SCV003921377 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005216023 SCV005856432 likely benign Marshall-Smith syndrome; Malan overgrowth syndrome 2024-06-03 criteria provided, single submitter clinical testing

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