ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4500C>T (p.Asp1500=)

gnomAD frequency: 0.00005  dbSNP: rs553547580
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 RCV001953032 SCV002224265 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497826 SCV002812946 likely benign Sucrase-isomaltase deficiency 2022-01-18 criteria provided, single submitter clinical testing

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