ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)

dbSNP: rs1942117760
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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 RCV001212437 SCV001384020 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-31 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001212437 SCV005329058 likely benign Developmental and epileptic encephalopathy, 36 2024-09-20 criteria provided, single submitter clinical testing The hemizygous variant was found in patients with no symptoms related to the gene containing the hemizygous variant.

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