ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.8311A>G (p.Ile2771Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005236332 SCV005882565 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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