ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1607+9G>A

dbSNP: rs757477975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610647 SCV000722734 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001422630 SCV001625186 likely benign Nemaline myopathy 8 2022-07-19 criteria provided, single submitter clinical testing

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