ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust and "pathogenic" from OMIM

Minimum review status of the submission from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust: Collection method of the submission from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust:
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
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) rs772083375
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647

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