ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Gharavi Laboratory,Columbia University and "likely pathogenic" from GeneDx

Minimum review status of the submission from Gharavi Laboratory,Columbia University: Collection method of the submission from Gharavi Laboratory,Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083

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