ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1227C>T (p.Ala409=)

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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 RCV005165953 SCV005800451 likely benign Genitopatellar syndrome 2024-06-19 criteria provided, single submitter clinical testing

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