ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital: Collection method of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital:
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_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206

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