ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4413G>A (p.Lys1471=)

dbSNP: rs2092320033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266659 SCV002548701 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2021-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005095948 SCV005824650 likely benign FG syndrome 2024-11-14 criteria provided, single submitter clinical testing

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