ClinVar Miner

Variants with conflicting interpretations "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "benign" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002

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