ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences and "uncertain significance" from GeneDx

Minimum review status of the submission from Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences: Collection method of the submission from Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences:
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_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009

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