ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2401_2402del (p.Met801fs)

dbSNP: rs2138162739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Angers RCV001523774 SCV001712995 pathogenic Coffin-Siris syndrome 6 2021-01-01 criteria provided, single submitter clinical testing

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