ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)

gnomAD frequency: 0.00328  dbSNP: rs145714368
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126403 SCV000169907 benign not specified 2013-12-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224765 SCV000281550 likely benign not provided 2015-10-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084250 SCV000286310 benign Koolen-de Vries syndrome 2023-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000224765 SCV001144294 benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001084250 SCV002803076 likely benign Koolen-de Vries syndrome 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224765 SCV005212948 likely benign not provided criteria provided, single submitter not provided

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