ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.6189C>G (p.Val2063=)

gnomAD frequency: 0.00036  dbSNP: rs56212782
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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 RCV000906169 SCV001050792 benign not provided 2024-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000906169 SCV001812700 likely benign not provided 2019-10-20 criteria provided, single submitter clinical testing

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