ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.865-18T>G

gnomAD frequency: 0.00002  dbSNP: rs564993517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002189529 SCV002343098 likely benign Pierpont syndrome 2024-05-15 criteria provided, single submitter clinical testing

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