ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.288+11A>G

gnomAD frequency: 0.00309  dbSNP: rs151088933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522985 SCV001732629 benign Congenital myasthenic syndrome 15 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001587461 SCV001825021 likely benign not provided 2019-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522985 SCV004049482 benign Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346602 SCV004049483 benign Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346603 SCV004049484 benign Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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