ClinVar Miner

Submissions for variant NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)

dbSNP: rs1569309460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585663 SCV001818996 pathogenic not provided 2020-03-31 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Frints et al., 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29728705)
MGZ Medical Genetics Center RCV000709994 SCV002581663 likely pathogenic Intellectual disability, X-linked 61 2022-08-16 criteria provided, single submitter clinical testing
OMIM RCV000709994 SCV000840359 pathogenic Intellectual disability, X-linked 61 2019-10-31 no assertion criteria provided literature only

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