ClinVar Miner

Submissions for variant NM_020184.4(CNNM4):c.927T>C (p.Phe309=)

gnomAD frequency: 0.00002  dbSNP: rs373657140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513340 SCV000608954 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513340 SCV002465573 likely benign not provided 2022-02-04 criteria provided, single submitter clinical testing

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