ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1156+8C>T

gnomAD frequency: 0.00001  dbSNP: rs202060468
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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 RCV001497620 SCV001702355 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing

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