ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.783C>T (p.Ser261=)

gnomAD frequency: 0.00081  dbSNP: rs141440344
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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 RCV000960563 SCV001107558 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2024-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721690 SCV005331317 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ZBTB24: BP4, BP7

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