ClinVar Miner

Submissions for variant NM_021999.5(ITM2B):c.81C>T (p.Leu27=)

gnomAD frequency: 0.03334  dbSNP: rs11556899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001579801 SCV002456393 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579801 SCV005230266 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579801 SCV001808565 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727909 SCV001970732 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001579801 SCV002036030 likely benign not provided no assertion criteria provided clinical testing

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