ClinVar Miner

Submissions for variant NC_000004.12:g.1113690T>C

gnomAD frequency: 0.61416  dbSNP: rs62296477
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics & Genomics Research Unit, University of Calcutta RCV001265538 SCV001441567 risk factor Down syndrome 2019-09-10 no assertion criteria provided case-control This was a variant found in the promoter region of RNF212 from mothers that has down syndrome child. We anticipate this variant as a significant risk factor.

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