ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro)

gnomAD frequency: 0.00003  dbSNP: rs727505048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156475 SCV000206194 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The Ser906Pro variant in MYO6 has not been previously reported in individuals wi th hearing loss and was absent from large population studies. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, additional information is needed to de termine the clinical significance of this variant.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477860 SCV000536858 uncertain significance Autosomal dominant nonsyndromic hearing loss 22 2015-10-27 no assertion criteria provided research

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