ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)

dbSNP: rs2102735801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001541909 SCV001759938 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 RCV001823778 SCV002073381 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2022-02-01 no assertion criteria provided literature only

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