ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.54T>C (p.Ala18=)

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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 RCV003641913 SCV004516160 likely benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2023-06-16 criteria provided, single submitter clinical testing

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