ClinVar Miner

Submissions for variant NM_001010888.4(ZC3H12B):c.1430C>T (p.Pro477Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004114124 SCV003577488 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.1430C>T (p.P477L) alteration is located in exon 5 (coding exon 5) of the ZC3H12B gene. This alteration results from a C to T substitution at nucleotide position 1430, causing the proline (P) at amino acid position 477 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004809924 SCV005434143 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing ZC3H12B: BP4, BS2

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