ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) (rs727503329)

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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, Partners HealthCare Personalized Medicine RCV000844721 SCV000199592 likely pathogenic Rare genetic deafness 2017-07-17 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000151505 SCV000599834 pathogenic Usher syndrome, type 1 2017-04-20 no assertion criteria provided clinical testing

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