ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro)

dbSNP: rs185682596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311908 SCV001502274 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing MBOAT7: BS2
Baylor Genetics RCV001336089 SCV001529385 uncertain significance Intellectual disability, autosomal recessive 57 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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