ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.1695+4C>T

gnomAD frequency: 0.00002  dbSNP: rs747781002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508414 SCV001714556 uncertain significance not provided 2019-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001508414 SCV004564367 likely benign not provided 2023-01-06 criteria provided, single submitter clinical testing

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