ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1519-21_1519-18del

dbSNP: rs777937343
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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 RCV002071259 SCV002323623 benign Pierpont syndrome 2023-10-03 criteria provided, single submitter clinical testing

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