ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+90T>C

dbSNP: rs35047242
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 RCV001636114 SCV001851158 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636114 SCV005251293 benign not provided criteria provided, single submitter not provided

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