ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.5306T>C (p.Phe1769Ser)

dbSNP: rs2151661305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808091 SCV002058556 uncertain significance Snijders Blok-Campeau syndrome 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.877, PP3_P). A missense variant is a common mechanism associated with Snijders Blok-Campeau syndrome (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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