ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4119C>T (p.Ser1373=)

gnomAD frequency: 0.00011  dbSNP: rs747714674
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787613 SCV002031089 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001787613 SCV003785859 benign not provided 2023-07-27 criteria provided, single submitter clinical testing

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