ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.624C>G (p.Ala208=)

gnomAD frequency: 0.01172  dbSNP: rs116178720
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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 RCV000908478 SCV001053244 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000908478 SCV002004448 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502715 SCV002813779 benign Cerebral palsy, spastic quadriplegic, 2 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000908478 SCV005223045 likely benign not provided criteria provided, single submitter not provided

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