ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.864C>T (p.Ser288=)

gnomAD frequency: 0.00001  dbSNP: rs374925596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807207 SCV000947249 likely benign Nemaline myopathy 8 2023-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000828069 SCV000969746 likely benign not provided 2018-06-01 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.

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