ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.739+20dup

dbSNP: rs2531693796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003790419 SCV004580204 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-04-28 criteria provided, single submitter clinical testing

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