ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4537-18T>C

gnomAD frequency: 0.00002  dbSNP: rs769548026
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002163885 SCV002478131 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing

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