ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)

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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 RCV003821029 SCV004625221 likely benign Pontocerebellar hypoplasia type 1B 2023-07-17 criteria provided, single submitter clinical testing

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