ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.6141G>A (p.Met2047Ile)

dbSNP: rs1846281686
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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 RCV003646229 SCV004404389 likely benign Genitopatellar syndrome 2023-08-17 criteria provided, single submitter clinical testing

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