ClinVar Miner

Submissions for variant NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) (rs116420871)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957607 SCV001104420 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000033135 SCV000056916 pathogenic Spermatogenic failure 11 2006-12-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000033135 SCV001142472 uncertain significance Spermatogenic failure 11 2020-01-06 no assertion criteria provided curation NM_152467.3:c.647A>C in the KLHL10 gene has an allele frequency of 0.013 in African subpopulation in the gnomAD database. This variant has been detected in four individual with oligozoospermia (PMID: 17047026). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1, PP4.

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