ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)

gnomAD frequency: 0.00008  dbSNP: rs369091875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577267 SCV001804618 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV001577267 SCV002406030 benign not provided 2021-11-08 criteria provided, single submitter clinical testing
Mendelics RCV002248740 SCV002519083 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000504966 SCV000586695 pathogenic Van Maldergem syndrome 1 2016-03-05 no assertion criteria provided clinical testing This variant has been reported in 1000 Genomes and ExAC databases. This variant is predicted to be probably damaging by PolyPhen-2 and damaging by LRT and Mutation Taster.
Reproductive Health Research and Development,BGI Genomics RCV000504966 SCV001142417 uncertain significance Van Maldergem syndrome 1 2020-01-06 no assertion criteria provided curation NM_003737.2:c.2382G>C in the DCHS1 gene has an allele frequency of 0.008 in South Asian subpopulation in the gnomAD database. It has not been reported previously as a pathogenic variant nor as a benign variant. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: Null.

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