ClinVar Miner

Submissions for variant NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)

dbSNP: rs387906804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814010 SCV001755667 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
OMIM RCV000023095 SCV000044386 pathogenic Intellectual disability, autosomal recessive 7 2011-08-01 no assertion criteria provided literature only

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