ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)

gnomAD frequency: 0.00002  dbSNP: rs893203290
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 RCV000820279 SCV000960986 likely benign Developmental and epileptic encephalopathy 94 2025-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090944 SCV001246737 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing

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