ClinVar Miner

Variants with conflicting interpretations "benign" from Color Diagnostics, LLC DBA Color Health and "uncertain significance" from Ambry Genetics

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val) rs80359034 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) rs55842957 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681

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