ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)

gnomAD frequency: 0.00001  dbSNP: rs755818826
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Total submissions: 4
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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 RCV001375190 SCV001571796 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate
Invitae RCV001579415 SCV002193985 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579415 SCV001807153 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579415 SCV001923443 uncertain significance not provided no assertion criteria provided clinical testing

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