ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely benign" from Counsyl

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: 8
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HGVS dbSNP
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197

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