ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter)

dbSNP: rs1486566170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002211031 SCV002496386 likely pathogenic Nemaline myopathy 8 2022-01-01 criteria provided, single submitter clinical testing

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