ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)

dbSNP: rs768335581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330425 SCV001522105 pathogenic Nemaline myopathy 8 2019-09-12 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001330425 SCV002515342 likely pathogenic Nemaline myopathy 8 2022-02-01 criteria provided, single submitter clinical testing

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