ClinVar Miner

Submissions for variant NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)

dbSNP: rs1598595659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853614 SCV001245373 pathogenic Spermatogenic failure 39 2020-02-14 criteria provided, single submitter curation This variant is interpreted as pathogenic for spermatogenic failure 39, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PP1, PP2, PS3, PM1-Supporting.
OMIM RCV000853614 SCV000996582 pathogenic Spermatogenic failure 39 2022-07-27 no assertion criteria provided literature only

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