ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002114234 SCV002448646 likely benign Koolen-de Vries syndrome 2022-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269129 SCV003976893 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.2900C>A (p.P967H) alteration is located in exon 14 (coding exon 13) of the KANSL1 gene. This alteration results from a C to A substitution at nucleotide position 2900, causing the proline (P) at amino acid position 967 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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