ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1686T>C (p.Tyr562=)

gnomAD frequency: 0.00009  dbSNP: rs763063946
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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 RCV002110346 SCV002431531 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500159 SCV002809125 likely benign Sucrase-isomaltase deficiency 2021-12-20 criteria provided, single submitter clinical testing

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