ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub and "pathogenic" from any submitter

Minimum review status of the submission from Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub: Collection method of the submission from Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub:
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_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) rs772083375

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