ClinVar Miner

Variants with conflicting interpretations "benign" from Reproductive Health Research and Development, BGI Genomics and "likely pathogenic" from any submitter

Minimum review status of the submission from Reproductive Health Research and Development, BGI Genomics: Collection method of the submission from Reproductive Health Research and Development, BGI Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492

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