ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)

dbSNP: rs371488822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376667 SCV001478012 likely pathogenic Global developmental delay; Seizure; Intellectual disability 2021-01-18 criteria provided, single submitter research
GenomeConnect, ClinGen RCV001824945 SCV002075023 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-12-2018 by Lab or GTR ID 1006. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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