ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.137-18T>A

gnomAD frequency: 0.07764  dbSNP: rs12751061
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600098 SCV000729991 benign not specified 2017-07-26 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.
Invitae RCV001512131 SCV001719481 benign Congenital myasthenic syndrome 15 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001512131 SCV004049506 benign Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343949 SCV004049507 benign Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343950 SCV004049508 benign Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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