ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1251-8T>A

gnomAD frequency: 0.00065  dbSNP: rs148654942
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 RCV000903734 SCV001048215 benign Pierpont syndrome 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001553021 SCV001773816 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing

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