ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Invitae and "benign" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
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_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799

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