ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.435C>T (p.Asn145=)

dbSNP: rs115684579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001167102 SCV001329552 uncertain significance Testosterone 17-beta-dehydrogenase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV003769810 SCV004614871 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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