ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2862G>A (p.Lys954=)

gnomAD frequency: 0.00001  dbSNP: rs377552984
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110198 SCV002436892 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494370 SCV002796499 likely benign Sucrase-isomaltase deficiency 2022-03-07 criteria provided, single submitter clinical testing

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