ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.684A>C (p.Thr228=)

gnomAD frequency: 0.00123  dbSNP: rs141395388
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532052 SCV000654910 benign Nemaline myopathy 9 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001662597 SCV001872901 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001662597 SCV003916165 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KLHL41: BP4, BP7

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