ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11173A>C (p.Thr3725Pro)

gnomAD frequency: 0.00005  dbSNP: rs143269206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854654 SCV002189041 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042232 SCV005667294 uncertain significance Kleefstra syndrome 2 2024-01-10 criteria provided, single submitter clinical testing
ITMI RCV000121499 SCV000085693 not provided not specified 2013-09-19 no assertion provided reference population

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