ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.3058-9C>T

gnomAD frequency: 0.35686  dbSNP: rs2072914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666295 SCV001883655 benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838739 SCV002098927 benign X-linked intellectual disability-short stature-overweight syndrome 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666295 SCV005278021 benign not provided criteria provided, single submitter not provided

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