ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.1099+2dup

dbSNP: rs2137711145
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV002221832 SCV002499068 likely pathogenic Coffin-Siris syndrome 7 2022-02-18 criteria provided, single submitter clinical testing PS2, PM2

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