ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)

dbSNP: rs887315764
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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 RCV001241782 SCV001414824 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001241782 SCV002791755 uncertain significance Developmental and epileptic encephalopathy, 36 2022-05-16 criteria provided, single submitter clinical testing

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