ClinVar Miner

Submissions for variant NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) (rs10509305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001790 SCV000021946 pathogenic Preeclampsia/eclampsia 4 2005-05-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000001790 SCV001142410 benign Preeclampsia/eclampsia 4 2020-01-06 no assertion criteria provided curation NM_152709.4:c.1824A>C in the STOX1 gene has an allele frequency of 0.307 in European (Finnish) subpopulation in gnomAD dacabase. 7171 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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