ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn)

gnomAD frequency: 0.01483  dbSNP: rs28381079
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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 RCV000640948 SCV000762553 benign Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2024-12-09 criteria provided, single submitter clinical testing

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