ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=)

gnomAD frequency: 0.00011  dbSNP: rs370165461
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457440 SCV000561826 likely benign Perlman syndrome 2024-01-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000457440 SCV002532390 uncertain significance Perlman syndrome 2021-08-09 criteria provided, single submitter curation

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