ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.501T>G (p.Ala167=)

dbSNP: rs1553680357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534042 SCV000654255 likely benign Nemaline myopathy 8 2017-10-24 criteria provided, single submitter clinical testing

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