ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1881A>G (p.Val627=)

gnomAD frequency: 0.00002  dbSNP: rs201053163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537831 SCV002949956 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279114 SCV001466181 uncertain significance Bifunctional peroxisomal enzyme deficiency 2020-08-13 no assertion criteria provided clinical testing

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