ClinVar Miner

Submissions for variant NM_001388419.1(KALRN):c.2177C>T (p.Ser726Leu)

gnomAD frequency: 0.00213  dbSNP: rs145790621
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262907 SCV001440954 uncertain significance Coronary heart disease, susceptibility to, 5 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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