ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.2304C>T (p.Ile768=)

gnomAD frequency: 0.00057  dbSNP: rs201796684
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 RCV000905774 SCV001050372 benign not provided 2022-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905774 SCV004701599 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ST14: BP4

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