ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)

gnomAD frequency: 0.00003  dbSNP: rs372399868
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Total submissions: 3
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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 RCV001375201 SCV001571855 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting, BP5_Supporting
Fulgent Genetics, Fulgent Genetics RCV002504625 SCV002816632 uncertain significance Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 2021-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481101 SCV004223895 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing PP3

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