ClinVar Miner

Submissions for variant NM_024339.5(THOC6):c.139C>T (p.Gln47Ter)

gnomAD frequency: 0.00001  dbSNP: rs578012528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268489 SCV001447458 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School RCV000782266 SCV000920765 likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome no assertion criteria provided clinical testing

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