ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6158+9C>T

gnomAD frequency: 0.00009  dbSNP: rs200249108
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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 RCV002121598 SCV002448833 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494413 SCV002795629 likely benign Wiedemann-Steiner syndrome 2022-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002121598 SCV005212750 likely benign not provided criteria provided, single submitter not provided

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