ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.397A>C (p.Ser133Arg)

gnomAD frequency: 0.00001  dbSNP: rs1315070775
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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 RCV001313849 SCV001504357 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2021-08-26 criteria provided, single submitter clinical testing

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