ClinVar Miner

Submissions for variant NM_014633.5(CTR9):c.2097C>T (p.Ser699=)

gnomAD frequency: 0.00068  dbSNP: rs140813178
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 RCV001516937 SCV001725311 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001516937 SCV004135968 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CTR9: BP4, BP7

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