ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1251A>G (p.Val417=)

gnomAD frequency: 0.01239  dbSNP: rs79580851
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253099 SCV000311358 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000532999 SCV000654896 benign Nemaline myopathy 9 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001546384 SCV001765889 likely benign not provided 2021-02-11 criteria provided, single submitter clinical testing

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