ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5364C>T (p.Ser1788=)

gnomAD frequency: 0.00001  dbSNP: rs769349793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552872 SCV001773642 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001552872 SCV002489722 likely benign not provided 2024-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001552872 SCV004146798 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ITPR1: BP4, BP7
Athena Diagnostics RCV004998944 SCV005622305 likely benign not specified 2023-12-07 criteria provided, single submitter clinical testing

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