ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) (rs80338759)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012277 SCV000032511 pathogenic X-linked mental retardation with marfanoid habitus syndrome 2008-08-08 no assertion criteria provided literature only
GeneReviews RCV000012277 SCV000041143 pathologic X-linked mental retardation with marfanoid habitus syndrome 2008-06-23 no assertion criteria provided curation Converted during submission to Pathogenic.

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