ClinVar Miner

Submissions for variant NM_005886.3(KATNB1):c.1047-19del

gnomAD frequency: 0.00420  dbSNP: rs371014561
Minimum review status: Collection method:
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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 RCV001568091 SCV001791899 likely benign not provided 2018-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001568091 SCV003032489 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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