ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2019-18C>T

gnomAD frequency: 0.00006  dbSNP: rs181972681
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 RCV002132364 SCV002404425 benign Kleefstra syndrome 1 2024-12-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718999 SCV005318154 benign not provided criteria provided, single submitter not provided

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