ClinVar Miner

Submissions for variant NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)

gnomAD frequency: 0.00001  dbSNP: rs765281145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000853571 SCV001430111 likely pathogenic Siddiqi syndrome 2019-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001766769 SCV001990659 uncertain significance not provided 2020-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30288795, 33098801)
OMIM RCV000853571 SCV000996537 pathogenic Siddiqi syndrome 2019-10-24 no assertion criteria provided literature only

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