ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.167C>T (p.Thr56Met)

gnomAD frequency: 0.00001  dbSNP: rs1201646093
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001211919 SCV001962622 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211919 SCV001383483 likely benign not provided 2025-06-01 criteria provided, single submitter clinical testing

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