ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital and "likely benign" from any submitter

Minimum review status of the submission from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Clinical Genomics Lab, 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: 22
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HGVS dbSNP
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000455.4(STK11):c.1045G>A (p.Glu349Lys) rs553752236
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_002354.2(EPCAM):c.93C>G (p.Asn31Lys) rs555329870
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_007294.3(BRCA1):c.5075-6C>A rs397507240
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483
NM_020975.6(RET):c.625+9C>T rs201453349
NM_177438.2(DICER1):c.2720T>C (p.Ile907Thr) rs200408568
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959
NM_177438.2(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374

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