ClinVar Miner

Submissions for variant NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)

gnomAD frequency: 0.00085  dbSNP: rs148946391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887140 SCV001030681 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000988796 SCV001138658 benign Meconium ileus 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000887140 SCV003810604 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing

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