ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.2158C>T (p.Arg720Trp)

gnomAD frequency: 0.00279  dbSNP: rs201119677
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 RCV000974468 SCV001122291 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974468 SCV001248419 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SCYL1: BP4, BS2

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