ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Diagnostic Laboratory, Strasbourg University Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Strasbourg University Hospital: Collection method of the submission from Diagnostic Laboratory, Strasbourg University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455

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