ClinVar Miner

Submissions for variant NM_001388419.1(KALRN):c.5182+21760C>T

gnomAD frequency: 0.00127  dbSNP: rs56407180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907565 SCV001052281 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000907565 SCV005264755 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000907565 SCV001740955 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000907565 SCV001968978 uncertain significance not provided no assertion criteria provided clinical testing

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