ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1554+17G>A

gnomAD frequency: 0.00970  dbSNP: rs80123990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567705 SCV001791441 likely benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001567705 SCV002413999 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476870 SCV002794609 likely benign Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001567705 SCV005262473 likely benign not provided criteria provided, single submitter not provided

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