ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.237+1G>T

dbSNP: rs1426841589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000824687 SCV000930700 pathogenic Coffin-Siris syndrome 5 2019-07-10 criteria provided, single submitter clinical testing
Duke University Health System Sequencing Clinic, Duke University Health System RCV000824687 SCV003919001 pathogenic Coffin-Siris syndrome 5 2023-04-20 criteria provided, single submitter research

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