ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.1146A>G (p.Gln382=)

gnomAD frequency: 0.00001  dbSNP: rs746345312
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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 RCV001947286 SCV002133735 likely benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2024-01-19 criteria provided, single submitter clinical testing

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