ClinVar Miner

Variants with conflicting interpretations "pathogenic" from CZECANCA consortium and "likely pathogenic" from any submitter

Minimum review status of the submission from CZECANCA consortium: Collection method of the submission from CZECANCA consortium:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339

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