ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1886+7C>T

gnomAD frequency: 0.00207  dbSNP: rs181465598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394314 SCV000332195 benign not specified 2015-06-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712013 SCV000842426 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712013 SCV001029945 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000712013 SCV001796443 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712013 SCV005262474 likely benign not provided criteria provided, single submitter not provided

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