ClinVar Miner

Submissions for variant NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004764111 SCV005371566 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005038821 SCV005669031 uncertain significance Diabetes mellitus type 1; Charcot-Marie-Tooth disease, demyelinating, type 1J 2024-02-06 criteria provided, single submitter clinical testing

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