ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.231-17_231-16del

dbSNP: rs572960228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366750 SCV000456770 uncertain significance Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061278 SCV002484820 benign Dyskeratosis congenita 2025-02-03 criteria provided, single submitter clinical testing

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