ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.4861G>A (p.Asp1621Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528596 SCV004109486 uncertain significance HIVEP2-related disorder 2023-04-25 criteria provided, single submitter clinical testing The HIVEP2 c.4861G>A variant is predicted to result in the amino acid substitution p.Asp1621Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-143091015-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003730578 SCV004525654 likely benign not provided 2023-03-04 criteria provided, single submitter clinical testing

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