ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.213C>G (p.Val71=)

dbSNP: rs575702154
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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 RCV002064730 SCV002433317 likely benign Dyskeratosis congenita 2023-09-12 criteria provided, single submitter clinical testing

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