ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5385G>A (p.Ser1795=)

dbSNP: rs759867192
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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 RCV002218925 SCV002362785 likely benign not provided 2023-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494122 SCV002800629 likely benign Sucrase-isomaltase deficiency 2022-02-16 criteria provided, single submitter clinical testing

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