ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.239G>A (p.Ser80Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003427289 SCV004155368 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing ZBTB20: PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV003427289 SCV004639125 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364592 SCV004981940 likely benign Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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