ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.951-20C>T

gnomAD frequency: 0.00023  dbSNP: rs201896227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002163090 SCV002467278 benign Perlman syndrome 2025-01-29 criteria provided, single submitter clinical testing

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