ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.5167A>G (p.Ile1723Val)

gnomAD frequency: 0.03026  dbSNP: rs56303497
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963973 SCV001111152 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000963973 SCV001861246 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000963973 SCV005233852 benign not provided criteria provided, single submitter not provided

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