ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.2769+5G>T

gnomAD frequency: 0.00022  dbSNP: rs73728782
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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 RCV002105535 SCV002400232 benign not provided 2024-11-04 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003444157 SCV004171117 benign Kleefstra syndrome 2 2023-11-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002105535 SCV005273484 benign not provided criteria provided, single submitter not provided

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