ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1815C>T (p.Ser605=)

gnomAD frequency: 0.00001  dbSNP: rs1457301708
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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 RCV003646731 SCV004466332 likely benign Genitopatellar syndrome 2023-12-25 criteria provided, single submitter clinical testing

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