ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4030-17C>T

gnomAD frequency: 0.00710  dbSNP: rs72997345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544935 SCV001764163 likely benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001544935 SCV002409446 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001544935 SCV005262486 likely benign not provided criteria provided, single submitter not provided

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