ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Ambry Genetics and "benign" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775

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