ClinVar Miner

Submissions for variant NM_001041.4(SI):c.969T>C (p.Phe323=)

gnomAD frequency: 0.00002  dbSNP: rs780057549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002216274 SCV002370868 likely benign not provided 2022-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486829 SCV002796194 likely benign Sucrase-isomaltase deficiency 2021-11-23 criteria provided, single submitter clinical testing

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