ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)

dbSNP: rs2538793280
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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 RCV003233450 SCV003932307 pathogenic Coffin-Siris syndrome 1 2023-02-08 criteria provided, single submitter clinical testing PVS1_Strong, PS2, PM2

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