ClinVar Miner

Submissions for variant NM_022662.4(ANAPC1):c.2705-198C>T

gnomAD frequency: 0.00002  dbSNP: rs999743155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000853402 SCV000996307 pathogenic Rothmund-Thomson syndrome type 1 2019-10-17 no assertion criteria provided literature only
CHU Sainte-Justine Research Center, University of Montreal RCV000853402 SCV000999016 likely pathogenic Rothmund-Thomson syndrome type 1 2019-05-31 no assertion criteria provided research

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