ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter)

dbSNP: rs552379239
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995585 SCV001149846 pathogenic Nemaline myopathy 2 2018-10-12 criteria provided, single submitter clinical testing

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