ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.211A>C (p.Asn71His)

dbSNP: rs2059977897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294294 SCV001483166 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548132 SCV004107437 uncertain significance SEC23B-related disorder 2023-02-15 criteria provided, single submitter clinical testing The SEC23B c.211A>C variant is predicted to result in the amino acid substitution p.Asn71His. This variant was reported in an individual with congenital dyserythropoietic anemia (Table S2 Bianchi et al 2016. PubMed ID: 27471141). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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