ClinVar Miner

Submissions for variant NM_001136.5(AGER):c.902G>C (p.Cys301Ser)

gnomAD frequency: 0.00157  dbSNP: rs138178120
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000881805 SCV001025000 benign not provided 2018-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881805 SCV001154704 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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