ClinVar Miner

Submissions for variant NM_001041.4(SI):c.186A>G (p.Lys62=)

gnomAD frequency: 0.00001  dbSNP: rs368169891
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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 RCV002154406 SCV002461906 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494482 SCV002801970 likely benign Sucrase-isomaltase deficiency 2021-08-16 criteria provided, single submitter clinical testing

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