ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from MVZ Dr. Eberhard & Partner Dortmund and "pathogenic" from any submitter

Minimum review status of the submission from MVZ Dr. Eberhard & Partner Dortmund: Collection method of the submission from MVZ Dr. Eberhard & Partner Dortmund:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_130849.4(SLC39A4):c.947_948dup (p.Val317fs)

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