ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1275C>T (p.Gly425=)

gnomAD frequency: 0.00006  dbSNP: rs557898007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192570 SCV002356695 likely benign Nemaline myopathy 8 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV004785474 SCV005401546 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing Report previously in cohort of patients with autism; this patient also harbored a variant in another gene (PMID: 35982159, 33057194); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 35982159, 33057194)

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