ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys)

gnomAD frequency: 0.00147  dbSNP: rs201308521
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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 RCV000469388 SCV000561859 benign Perlman syndrome 2024-01-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000469388 SCV002532396 likely benign Perlman syndrome 2021-05-21 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004708920 SCV005245501 benign not provided criteria provided, single submitter not provided

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