ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Pediatrics, Memorial Sloan Kettering Cancer Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Pediatrics, Memorial Sloan Kettering Cancer Center: Collection method of the submission from Department of Pediatrics, Memorial Sloan Kettering Cancer Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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