ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5726-107C>T

gnomAD frequency: 0.00494  dbSNP: rs78481273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569460 SCV001793542 likely benign not provided 2018-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001569460 SCV005262502 likely benign not provided criteria provided, single submitter not provided

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