ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.452G>A (p.Arg151Gln)

gnomAD frequency: 0.00659  dbSNP: rs61735296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965915 SCV001113198 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000965915 SCV001829613 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000965915 SCV005218915 likely benign not provided criteria provided, single submitter not provided

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