ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr)

gnomAD frequency: 0.00001  dbSNP: rs1467982801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565059 SCV001788330 likely benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001565059 SCV002051619 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing BP4, PM2

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