ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs)

dbSNP: rs2537452061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149155 SCV003836726 pathogenic Intellectual disability, autosomal dominant 5 2022-02-22 criteria provided, single submitter clinical testing

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