ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.849C>G (p.Pro283=)

dbSNP: rs767593470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329318 SCV001520724 uncertain significance Intellectual disability, autosomal recessive 57 2019-07-31 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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