ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3139C>T (p.Leu1047=)

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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 RCV002795264 SCV003028478 likely benign Intellectual disability, X-linked 1 2022-08-15 criteria provided, single submitter clinical testing

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