ClinVar Miner

Submissions for variant NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281645 SCV001468985 likely pathogenic not provided criteria provided, single submitter clinical testing
Baylor Genetics RCV003333147 SCV004041029 uncertain significance Intellectual disability, X-linked 61 2023-06-27 criteria provided, single submitter clinical testing

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