ClinVar Miner

Variants with conflicting interpretations "benign" from King Laboratory, University of Washington and "uncertain significance" from any submitter

Minimum review status of the submission from King Laboratory, University of Washington: Collection method of the submission from King Laboratory, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) rs199743500 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser) rs2072285447
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro) rs80358982
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.135-20T>G rs80358025
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=) rs1555574705
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934

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