ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.477C>T (p.His159=)

dbSNP: rs2125844656
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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 RCV001462948 SCV001666876 likely benign Nemaline myopathy 8 2020-10-14 criteria provided, single submitter clinical testing

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