ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=)

gnomAD frequency: 0.00015  dbSNP: rs187516662
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997235 SCV000842431 benign not specified 2023-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712018 SCV001041229 likely benign not provided 2024-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000712018 SCV002098263 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712018 SCV004146790 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ITPR1: BP4, BP7

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