ClinVar Miner

Submissions for variant NM_002223.4(ITPR2):c.2883C>T (p.His961=)

gnomAD frequency: 0.47600  dbSNP: rs2230372
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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 RCV001731027 SCV001980818 benign Isolated anhidrosis with normal sweat glands 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707692 SCV005236428 benign not provided criteria provided, single submitter not provided

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