ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)

gnomAD frequency: 0.00002  dbSNP: rs762731834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001450298 SCV001653900 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832581 SCV002075403 likely benign Bifunctional peroxisomal enzyme deficiency 2020-06-08 no assertion criteria provided clinical testing

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