ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro)

gnomAD frequency: 0.00036  dbSNP: rs370313067
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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 RCV002154236 SCV002461731 benign not provided 2022-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500336 SCV002796114 likely benign Kleefstra syndrome 2 2021-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002154236 SCV005331055 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2C: PP2, PP3, BS1

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