ClinVar Miner

Submissions for variant NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)

dbSNP: rs2116052322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249061 SCV002517262 likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV002249061 SCV002520483 pathogenic Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 2022-05-02 no assertion criteria provided literature only

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