ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr)

gnomAD frequency: 0.00168  dbSNP: rs74843241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242450 SCV000316172 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242450 SCV000528514 benign not specified 2016-06-30 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 RCV000528943 SCV000654260 benign Nemaline myopathy 8 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000242450 SCV001475937 benign not specified 2020-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708173 SCV005238883 benign not provided criteria provided, single submitter not provided

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