ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1923T>C (p.Asn641=)

gnomAD frequency: 0.00009  dbSNP: rs775814377
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000229626 SCV000291499 likely benign Perlman syndrome 2024-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000229626 SCV005656221 uncertain significance Perlman syndrome 2024-05-15 criteria provided, single submitter clinical testing

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