ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)

gnomAD frequency: 0.00030  dbSNP: rs73790880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658286 SCV000340140 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000658286 SCV000780057 benign not provided 2019-10-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28649525)
Labcorp Genetics (formerly Invitae), Labcorp RCV001079376 SCV001052148 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835757 SCV002075424 likely benign Bifunctional peroxisomal enzyme deficiency 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535368 SCV004735903 likely benign HSD17B4-related disorder 2022-02-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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