ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)

gnomAD frequency: 0.34127  dbSNP: rs7220988
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385034 SCV000403606 benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389204 SCV000483646 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712042 SCV000842456 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Mendelics RCV000989938 SCV001140679 benign Koolen-de Vries syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989938 SCV001721730 benign Koolen-de Vries syndrome 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000712042 SCV001892709 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23909765)
Fulgent Genetics, Fulgent Genetics RCV000989938 SCV002797977 benign Koolen-de Vries syndrome 2021-09-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712042 SCV005247048 benign not provided criteria provided, single submitter not provided

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