ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.740-16T>G

gnomAD frequency: 0.00789  dbSNP: rs35416500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570839 SCV001795199 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV002072207 SCV002493943 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-31 criteria provided, single submitter clinical testing

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