ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.2164del (p.Asp722fs)

dbSNP: rs1696816233
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
Suma Genomics RCV001619767 SCV001847675 pathogenic 3M syndrome 2 criteria provided, single submitter clinical testing

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