ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)

dbSNP: rs2102737050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823779 SCV003925629 uncertain significance Bryant-Li-Bhoj neurodevelopmental syndrome 1 2023-04-03 criteria provided, single submitter clinical testing Criteria applied: PS4_MOD,PM2_SUP,PP2
Baylor Genetics RCV001541911 SCV001759940 likely pathogenic Global developmental delay; Short stature; Delayed speech and language development; Intellectual disability; Brain imaging abnormality 2021-07-15 no assertion criteria provided research
OMIM RCV001823779 SCV002073378 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2022-02-01 no assertion criteria provided literature only

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