ClinVar Miner

Submissions for variant NM_005886.3(KATNB1):c.1643+17G>C

gnomAD frequency: 0.00411  dbSNP: rs146270892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559405 SCV001781622 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559405 SCV002409219 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001559405 SCV005218517 likely benign not provided criteria provided, single submitter not provided

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