ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust and "likely pathogenic" from any submitter

Minimum review status of the submission from Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust: Collection method of the submission from Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892

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