ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)

gnomAD frequency: 0.00037  dbSNP: rs201083879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000460973 SCV000241341 benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085743 SCV000559737 likely benign Koolen-de Vries syndrome 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000460973 SCV001144291 benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001085743 SCV002795898 likely benign Koolen-de Vries syndrome 2021-07-07 criteria provided, single submitter clinical testing

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