ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)

dbSNP: rs2135575353
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Total submissions: 2
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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 RCV001375392 SCV001571825 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Fulgent Genetics, Fulgent Genetics RCV002493910 SCV002779990 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-07-23 criteria provided, single submitter clinical testing

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