ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3541A>T (p.Ile1181Phe)

dbSNP: rs2151603544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706837 SCV001934361 uncertain significance Snijders Blok-Campeau syndrome 2020-12-07 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)

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