ClinVar Miner

Submissions for variant NM_005189.3(CBX2):c.849G>T (p.Lys283Asn)

gnomAD frequency: 0.00375  dbSNP: rs149210919
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 RCV000974139 SCV001121953 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974139 SCV004144419 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CBX2: BP4, BS2

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