ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.624+18T>C

gnomAD frequency: 0.00210  dbSNP: rs145400239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550113 SCV001770394 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550113 SCV002442766 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001550113 SCV005262463 likely benign not provided criteria provided, single submitter not provided

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