ClinVar Miner

Submissions for variant NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003151459 SCV003803746 pathogenic Intellectual disability; Neurodevelopmental delay 2023-02-15 criteria provided, single submitter clinical testing
OMIM RCV003325246 SCV004031078 pathogenic Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 2023-08-29 no assertion criteria provided literature only

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