ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genologica Medica and "likely pathogenic" from any submitter

Minimum review status of the submission from Genologica Medica: Collection method of the submission from Genologica Medica:
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_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751

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