ClinVar Miner

Submissions for variant NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)

gnomAD frequency: 0.00001  dbSNP: rs750972972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000985072 SCV001522082 likely pathogenic Intellectual disability, X-linked 101 2019-07-12 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985072 SCV001133022 likely pathogenic Intellectual disability, X-linked 101 2019-09-26 no assertion criteria provided clinical testing

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