ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)

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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 RCV003874195 SCV004681271 likely benign Pontocerebellar hypoplasia type 1B 2023-06-16 criteria provided, single submitter clinical testing

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