ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2604+30del

dbSNP: rs746440359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675561 SCV001771779 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675561 SCV000801252 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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