ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3466C>T (p.Leu1156=)

gnomAD frequency: 0.00056  dbSNP: rs144285578
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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 RCV001424780 SCV001627382 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501504 SCV002809134 likely benign Sucrase-isomaltase deficiency 2022-02-03 criteria provided, single submitter clinical testing

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