ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His)

dbSNP: rs762584679
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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 RCV001360132 SCV001556035 uncertain significance Cernunnos-XLF deficiency 2021-09-01 criteria provided, single submitter clinical testing

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