ClinVar Miner

Submissions for variant NM_002223.4(ITPR2):c.93-10T>A

gnomAD frequency: 0.23365  dbSNP: rs7314747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731030 SCV001980821 benign Isolated anhidrosis with normal sweat glands 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709129 SCV005236434 benign not provided criteria provided, single submitter not provided

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