ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile)

gnomAD frequency: 0.00033  dbSNP: rs149980411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247035 SCV000316167 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247035 SCV000529556 benign not specified 2016-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000552659 SCV000654248 benign Nemaline myopathy 8 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708172 SCV005241067 benign not provided criteria provided, single submitter not provided

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