ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr)

dbSNP: rs2123394094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226600 SCV002505593 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2022-04-08 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP, PP3

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