ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1152-6T>C

gnomAD frequency: 0.00001  dbSNP: rs752886993
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289065 SCV001476634 uncertain significance not provided 2020-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001289065 SCV003785059 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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