ClinVar Miner

Submissions for variant NM_001042472.3(ABHD12):c.838G>A (p.Glu280Lys)

gnomAD frequency: 0.00001  dbSNP: rs995580201
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
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375317 SCV001571939 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting

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