ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)

dbSNP: rs1560098548
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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 RCV000689534 SCV000817188 likely pathogenic Pierpont syndrome 2021-07-14 criteria provided, single submitter clinical testing

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