ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5241C>T (p.Ser1747=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005153025 SCV005774583 likely benign Genitopatellar syndrome 2024-08-29 criteria provided, single submitter clinical testing

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