ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.34T>C (p.Leu12=)

gnomAD frequency: 0.00001  dbSNP: rs377113561
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000937718 SCV001083509 likely benign not provided 2024-11-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000937718 SCV004184276 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CIT: BP4, BP7

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