ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS and "likely benign" from any submitter

Minimum review status of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS: Collection method of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS:
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_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178

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