ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)

gnomAD frequency: 0.00003  dbSNP: rs201767875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729746 SCV000857433 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085833 SCV001062511 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000729746 SCV001824334 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273798 SCV001457296 uncertain significance Bifunctional peroxisomal enzyme deficiency 2019-10-28 no assertion criteria provided clinical testing

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