ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1430-13C>T

gnomAD frequency: 0.00180  dbSNP: rs200380351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693350 SCV001907517 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073238 SCV002489132 benign Tatton-Brown-Rahman overgrowth syndrome 2024-01-29 criteria provided, single submitter clinical testing

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