ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli and "uncertain significance" from any submitter

Minimum review status of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli: Collection method of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter) rs2138616482
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_005618.4(DLL1):c.845dup (p.Leu283fs) rs760008381
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246

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