ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.324+16G>A

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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 RCV005166474 SCV005801846 likely benign Pontocerebellar hypoplasia type 1B 2024-11-03 criteria provided, single submitter clinical testing

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