ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)

dbSNP: rs540563766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546787 SCV000636715 benign Perlman syndrome 2024-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000546787 SCV000895422 uncertain significance Perlman syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000546787 SCV001522100 uncertain significance Perlman syndrome 2020-01-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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