ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)

dbSNP: rs1556859017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704750 SCV000717782 likely benign not provided 2021-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509582 SCV004283330 likely benign Intellectual disability, X-linked 1 2024-07-27 criteria provided, single submitter clinical testing

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