ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys)

dbSNP: rs1253868717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709939 SCV000840298 not provided Tatton-Brown-Rahman overgrowth syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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