ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely benign" from Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
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_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239

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