ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)

dbSNP: rs1085307695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489176 SCV000577057 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33057194, 35982159, 38113761, 27899421, 34580403, 22581936, 37500730)
Institute of Human Genetics, University of Leipzig Medical Center RCV001262987 SCV001441053 likely pathogenic Coffin-Siris syndrome 1 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262987 SCV002054274 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Pediatric Genetics Clinic, Sheba Medical Center RCV001262987 SCV001712155 pathogenic Coffin-Siris syndrome 1 2021-05-13 no assertion criteria provided clinical testing

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