ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16625C>A (p.Ala5542Asp)

gnomAD frequency: 0.00001  dbSNP: rs373121319
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296401 SCV001485364 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375148 SCV001572106 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting

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