ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1995C>T (p.Asp665=)

gnomAD frequency: 0.00003  dbSNP: rs757380218
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 RCV002186171 SCV002488303 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500413 SCV002801102 likely benign Sucrase-isomaltase deficiency 2022-01-25 criteria provided, single submitter clinical testing

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