ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del)

dbSNP: rs142843476
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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 RCV000250171 SCV000316168 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545680 SCV000654250 benign Nemaline myopathy 8 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001618484 SCV001846897 benign not provided 2016-03-03 criteria provided, single submitter clinical testing

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