ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291470 SCV002583790 pathogenic Coffin-Siris syndrome 6 2022-07-28 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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