ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.1389C>G (p.Ser463=)

gnomAD frequency: 0.01949  dbSNP: rs2232447
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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 RCV000546666 SCV000651201 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000546666 SCV001473583 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2024-08-07 criteria provided, single submitter clinical testing

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