ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) (rs201992075)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SavaGenome Genetic Health Clinic 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.
OMIM RCV000257639 SCV000323257 pathogenic Sifrim-Hitz-Weiss syndrome 2018-08-20 no assertion criteria provided literature only

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