ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.966G>A (p.Leu322=)

dbSNP: rs2131610464
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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 RCV002200403 SCV002360006 likely benign Familial aplasia of the vermis 2022-08-24 criteria provided, single submitter clinical testing

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