ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)

gnomAD frequency: 0.00002  dbSNP: rs758805684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658856 SCV000780653 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329316 SCV001520722 uncertain significance Intellectual disability, autosomal recessive 57 2020-12-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000658856 SCV001771369 uncertain significance not provided 2020-06-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30701556)
Revvity Omics, Revvity RCV001329316 SCV003810792 uncertain significance Intellectual disability, autosomal recessive 57 2020-10-16 criteria provided, single submitter clinical testing

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