ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)

gnomAD frequency: 0.08132  dbSNP: rs28763868
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000241752 SCV000311361 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000986929 SCV001136086 benign Nemaline myopathy 9 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000986929 SCV001726216 benign Nemaline myopathy 9 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610666 SCV001834170 benign not provided 2018-07-21 criteria provided, single submitter clinical testing

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