ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.963G>A (p.Lys321=)

gnomAD frequency: 0.00014  dbSNP: rs368863176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463073 SCV000561844 likely benign Perlman syndrome 2023-12-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000463073 SCV002532434 likely benign Perlman syndrome 2022-01-25 criteria provided, single submitter curation

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