ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)

dbSNP: rs180876175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000984912 SCV002815869 uncertain significance Nephrotic syndrome, type 3 2021-11-09 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984912 SCV001132820 uncertain significance Nephrotic syndrome, type 3 2019-01-29 no assertion criteria provided clinical testing

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