ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.520G>C (p.Glu174Gln)

dbSNP: rs2130585385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV001391146 SCV001593094 uncertain significance Nephronophthisis 11 criteria provided, single submitter research PM2:not found in gnomAD PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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