ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe)

gnomAD frequency: 0.00983  dbSNP: rs28730867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250905 SCV000311363 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000530617 SCV000654913 benign Nemaline myopathy 9 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001540458 SCV001758349 benign not provided 2019-11-12 criteria provided, single submitter clinical testing

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