ClinVar Miner

Submissions for variant NM_025059.4(CCDC170):c.1810G>A (p.Val604Ile)

gnomAD frequency: 0.35996  dbSNP: rs6929137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777151 SCV002014664 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.51, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Department of Breast and Endocrine Surgery, Kumamoto University RCV000143990 SCV000188876 likely pathogenic Estrogen resistance syndrome 2014-03-01 no assertion criteria provided research

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