ClinVar Miner

Submissions for variant NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)

dbSNP: rs1602413491
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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 RCV000787302 SCV000998867 likely pathogenic Nephrotic syndrome, type 20 2019-08-20 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Nephrotic syndrome 20, X-linked. The following ACMG Tag(s) were applied: PM2, PP3, PS3.
OMIM RCV000787302 SCV000926239 pathogenic Nephrotic syndrome, type 20 2019-07-11 no assertion criteria provided literature only

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