ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=)

gnomAD frequency: 0.00371  dbSNP: rs200660585
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886613 SCV001030128 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501422 SCV002807304 likely benign Intellectual disability, autosomal dominant 43 2021-09-27 criteria provided, single submitter clinical testing

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