ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Marseille Medical Genetics, U1251, Aix Marseille University, Inserm and "pathogenic" from any submitter

Minimum review status of the submission from Marseille Medical Genetics, U1251, Aix Marseille University, Inserm: Collection method of the submission from Marseille Medical Genetics, U1251, Aix Marseille University, Inserm:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002

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