ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly)

gnomAD frequency: 0.00066  dbSNP: rs141234076
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514494 SCV000610432 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000514494 SCV001895405 benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514494 SCV002451592 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514494 SCV002545660 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KANK1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000514494 SCV005223053 likely benign not provided criteria provided, single submitter not provided

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