ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)

gnomAD frequency: 0.00005  dbSNP: rs201992075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Savagenome Genetic Health Clinic, Tarbiat Modares University RCV000257639 SCV000995070 benign Sifrim-Hitz-Weiss syndrome 2019-07-23 criteria provided, single submitter clinical testing The c.4822G>A (p.Val1608Ile) variant in CHD4 Gene has been previously reported as a pathogenic variant in clinvar (variation ID: 266123) and citation for this variant is one article with PMID: 27479907 number. controversially we found this variant in a healthy woman by Sanger sequencing, which shows it is just a benign variant.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000257639 SCV001367160 uncertain significance Sifrim-Hitz-Weiss syndrome 2019-12-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM6,PP5,BP4.
OMIM RCV000257639 SCV000323257 pathogenic Sifrim-Hitz-Weiss syndrome 2021-07-12 no assertion criteria provided literature only

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