ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1782G>A (p.Glu594=)

gnomAD frequency: 0.00002  dbSNP: rs371116469
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 RCV002199555 SCV002353581 likely benign Nemaline myopathy 8 2022-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438925 SCV004154291 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing KLHL40: BP4, BP7

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