ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=)

gnomAD frequency: 0.00013  dbSNP: rs561869177
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 RCV001523088 SCV001732745 benign Pierpont syndrome 2024-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001541035 SCV001758985 benign not provided 2019-05-13 criteria provided, single submitter clinical testing

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