ClinVar Miner

Submissions for variant NM_002223.4(ITPR2):c.4239C>T (p.Asp1413=)

gnomAD frequency: 0.26031  dbSNP: rs2230377
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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 RCV001731025 SCV001980816 benign Isolated anhidrosis with normal sweat glands 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707690 SCV005236426 benign not provided criteria provided, single submitter not provided

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