ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.733G>A (p.Asp245Asn)

gnomAD frequency: 0.00001  dbSNP: rs374137235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330719 SCV001522495 uncertain significance Nephrotic syndrome, type 3 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001330719 SCV005678602 uncertain significance Nephrotic syndrome, type 3 2024-05-21 criteria provided, single submitter clinical testing

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