ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "benign" from Natera, Inc.

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013

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