ClinVar Miner

Variants with conflicting interpretations "affects" from Pediatrics,All India Institute of Medical Sciences, New Delhi and "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Pediatrics,All India Institute of Medical Sciences, New Delhi: Collection method of the submission from Pediatrics,All India Institute of Medical Sciences, New Delhi:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949

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