ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins Ntd Llc (ga) and "likely pathogenic" from Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
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_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411

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