ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2778A>C (p.Pro926=)

dbSNP: rs1218547242
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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 RCV000952391 SCV001098891 likely benign Developmental and epileptic encephalopathy, 36 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721688 SCV005331233 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ALG13: BP4, BP7

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