ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1848G>A (p.Leu616=)

gnomAD frequency: 0.00019  dbSNP: rs141654883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890048 SCV001033771 likely benign Nemaline myopathy 8 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438562 SCV004154293 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KLHL40: BP4, BP7

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