ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
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_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739

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