ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)

gnomAD frequency: 0.00017  dbSNP: rs372149429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242268 SCV000311905 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000509279 SCV001768333 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
Invitae RCV002058235 SCV002450009 likely benign Genitopatellar syndrome 2024-01-22 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509279 SCV000607286 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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